unknown
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.38 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.4 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.33 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.3 Assay: Enzyme activity
Phenotype: Country: Japanese Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Finnish Sex: M Age At Diagnosis: 9
Reference Assay Results: Assay:
unknown
Phenotype: Country: Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.28 Assay: Enzyme activity
Phenotype: Intermediate Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.8 Assay: Enzyme activity
Phenotype: Attenuated Country: Austrian Sex: M Age At Diagnosis: 6
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.05 Assay: Enzyme activity
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Brazilian Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Mild Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 1.25 Assay: Enzyme activity
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Taiwanese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: M Age At Diagnosis: 2.3
Reference Assay Results: 0.059 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis: prenatal
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 2
Reference Assay Results: 6 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: Age At Diagnosis:
Reference Assay Results: 4 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 12
Reference Assay Results: 5 Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis: 4
Reference Assay Results: 0.005 Assay: Leukocyte GALNS activity (nmol/h/mg protein)
unknown
Phenotype: Country: Tunisian Sex: M Age At Diagnosis: 3
Reference Assay Results: 0.04 Assay: Leukocyte GALNS activity (nmol/h/mg protein)
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis: 8
Reference Assay Results: 0.02 Assay: Leukocyte GALNS activity (nmol/h/mg protein)
unknown
Phenotype: Country: Tunisian Sex: M Age At Diagnosis: 3
Reference Assay Results: 0.03 Assay: Leukocyte GALNS activity (nmol/h/mg protein)
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis: 5
Reference Assay Results: Assay: Leukocyte GALNS activity (nmol/h/mg protein)
unknown
Phenotype: Country: Sex: F Age At Diagnosis: 2
Reference Assay Results: 1.1 Assay: GALNS enz activity (WT 105-380 nmol/mg/17h)
unknown
Phenotype: Country: Tunisian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Tunisian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 0.5
Reference Assay Results: 3 Assay:
unknown
Phenotype: Severe Country: Japanese Sex: F Age At Diagnosis: 4
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 1
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Mild Country: Acadian Sex: M Age At Diagnosis:
Reference Assay Results: 422 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Acadian Sex: M Age At Diagnosis:
Reference Assay Results: 629 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: American caucasian, French Sex: M Age At Diagnosis: 2
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: F Age At Diagnosis: 6
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 6
Reference Assay Results: Assay:
Phenotype: Severe Country: American caucasian Sex: M Age At Diagnosis: 2.5
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: American caucasian Sex: F Age At Diagnosis: 3
Reference Assay Results: Assay:
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis: 1.6
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Polish Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Honduran Sex: M Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Polish Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
Phenotype: Rapidly progressing Country: Spanish Sex: F Age At Diagnosis: 1
Reference Assay Results: 2.37 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in leukocytes (44-260 nmol/17*mg prot)
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Brazilian Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Mild Country: Finnish Sex: M Age At Diagnosis: 7
Reference Assay Results: Assay:
Phenotype: Mild Country: Finnish Sex: M Age At Diagnosis: 4
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Mild Country: Finnish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Finnish Sex: M Age At Diagnosis: 6
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Finnish Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Finnish Sex: F Age At Diagnosis: 9
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: American caucasian Sex: M Age At Diagnosis: 14
Reference Assay Results: Assay:
Phenotype: Attenuated Country: American caucasian Sex: F Age At Diagnosis: 8
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis: 7
Reference Assay Results: 0.06 Assay: Leukocyte GALNS activity (nmol/h/mg protein)
unknown
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: Dutch Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 0.3 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Country: Korean Sex: F Age At Diagnosis: 10
Reference Assay Results: 195.4 CPCunit/g creatinine (Cr) Assay: Uninary GAG (WT range: <85 CPC unit/g Cr
Phenotype: Slowly progressing Country: Spanish Sex: M Age At Diagnosis: 38
Reference Assay Results: 0.07 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
Phenotype: Severe Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: 124 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: 171 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Indian Sex: M Age At Diagnosis: 1.2
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Caucasian Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Saudi Arabia Sex: F Age At Diagnosis: 1.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: Age At Diagnosis: 2
Reference Assay Results: 0 Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 17
Reference Assay Results: 3 Assay:
unknown
Phenotype: Intermediate Country: Dutch Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Italian Sex: M Age At Diagnosis: 1.2
Reference Assay Results: 2,2 nmol/mg/17 h Assay: leucocytes GALNS enzyme activity, normal values 8,6–19,4 nmol/mg/17 h)
Phenotype: Severe Country: Argentine Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Country: British Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Turkish Sex: M Age At Diagnosis:
Reference Assay Results: 6 Assay:
Phenotype: Country: Other Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Attenuated Country: Canadian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: American caucasian Sex: M Age At Diagnosis: 3.2
Reference Assay Results: Assay:
unknown
Phenotype: Rapidly progressing Country: Portuguese Sex: M Age At Diagnosis: 4
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Country: Tunisian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Pakistani Sex: M Age At Diagnosis: 0.6
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis: 0.08
Reference Assay Results: 0 Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis: 4
Reference Assay Results: 4 Assay:
Phenotype: Severe Country: Austrian Sex: F Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Country: Portuguese Sex: F Age At Diagnosis: 3
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Severe Country: American caucasian, Albanian Sex: M Age At Diagnosis: 1.4
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 9
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 7.3
Reference Assay Results: 0.5 Assay:
Phenotype: Attenuated Country: Canadian Sex: F Age At Diagnosis: Adolescence
Reference Assay Results: 20% normal Assay: GALNS activity fibroblast homogenates
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Brazilian Sex: F Age At Diagnosis: 3.3
Reference Assay Results: Assay:
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis: 7.1
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Japanese Sex: M Age At Diagnosis: 16
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
Phenotype: Mild Country: Japanese Sex: M Age At Diagnosis:
Reference Assay Results: 310 Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Unknown/atypical Country: Caucasian Sex: M Age At Diagnosis: 12
Reference Assay Results: 3% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Rapidly progressing Country: Portuguese Sex: M Age At Diagnosis: 12
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Severe Country: Irish Sex: M Age At Diagnosis: 1.25
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Irish Sex: F Age At Diagnosis: 4
Reference Assay Results: Assay:
Phenotype: Country: Chinese Sex: F Age At Diagnosis: 1.5
Reference Assay Results: 0.035 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.27 Assay: Enzyme activity
Phenotype: Intermediate Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.89 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 3.9
Reference Assay Results: 0.018 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
unknown
Phenotype: Attenuated Country: Chilean Sex: M Age At Diagnosis: 6.4
Reference Assay Results: Assay:
Phenotype: Country: British Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: Dutch Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.32 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.22 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.62 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.69 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
Phenotype: Country: British Sex: F Age At Diagnosis: 3
Reference Assay Results: 0 Assay:
unknown
Phenotype: Country: British Sex: F Age At Diagnosis: 4
Reference Assay Results: Assay:
unknown
Phenotype: Country: British Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: 5 Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis: 0.3
Reference Assay Results: 3 Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis: 3
Reference Assay Results: 4 Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis: 3
Reference Assay Results: 5 Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis: 2
Reference Assay Results: 5 Assay:
Phenotype: Severe Country: British/Irish Sex: M Age At Diagnosis: 0.5
Reference Assay Results: Assay:
Phenotype: Country: Australian Sex: Age At Diagnosis: 2.1
Reference Assay Results: 0.2 Assay:
Phenotype: Country: Other Sex: M Age At Diagnosis: 1
Reference Assay Results: 7 Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis: 0.75
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Irish Sex: M Age At Diagnosis: 9
Reference Assay Results: Assay:
Phenotype: Mild Country: Irish Sex: F Age At Diagnosis: 13
Reference Assay Results: Assay:
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: British/German Sex: M Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Country: Other Sex: M Age At Diagnosis: 1
Reference Assay Results: 4 Assay:
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Other Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Irish Sex: M Age At Diagnosis: 4
Reference Assay Results: Assay:
Phenotype: Country: British Sex: F Age At Diagnosis: 0.7
Reference Assay Results: Assay:
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis: 1
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis: 1.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: M Age At Diagnosis: 6
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: British/Irish Sex: F Age At Diagnosis: 3
Reference Assay Results: Assay:
unknown
Phenotype: Mild Country: Irish Sex: M Age At Diagnosis: 5
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: British/Irish Sex: M Age At Diagnosis: 8
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Irish Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis: 11
Reference Assay Results: 11 Assay:
unknown
Phenotype: Country: British Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: 1150 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Rapidly progressing Country: Portuguese Sex: F Age At Diagnosis: 4
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
Phenotype: Country: Asian-multiethnic Sex: Age At Diagnosis: 3
Reference Assay Results: 0 Assay:
Phenotype: Severe Country: Turkish Sex: F Age At Diagnosis: 1.5
Reference Assay Results: Assay:
Phenotype: Country: Turkish Sex: M Age At Diagnosis: 1
Reference Assay Results: 4 Assay:
Phenotype: Severe Country: American caucasian Sex: F Age At Diagnosis: 2
Reference Assay Results: Assay:
Phenotype: Severe Country: American caucasian, Italian Sex: F Age At Diagnosis: 3.5
Reference Assay Results: Assay:
Phenotype: Severe Country: American caucasian Sex: F Age At Diagnosis: 1.3
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 3
Reference Assay Results: 3 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis: 3
Reference Assay Results: 2 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 0.08
Reference Assay Results: 2 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis: 1
Reference Assay Results: 5 Assay:
unknown
Phenotype: Country: Norwegian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Moderate Country: African-Varied Sex: M Age At Diagnosis: 7
Reference Assay Results: 0.13 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in leukocytes (44-260 nmol/17*mg prot)
unknown
Phenotype: Severe Country: Japanese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.19 Assay: Enzyme activity
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Australian Sex: Age At Diagnosis: 4.4
Reference Assay Results: 1.7 Assay:
Phenotype: Country: Sex: F Age At Diagnosis: 1
Reference Assay Results: 0.2 Assay: GALNS enz activity (WT 105-380 nmol/mg/17h)
Phenotype: Severe Country: Canadian caucasian Sex: M Age At Diagnosis: 1.7
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Sex: M Age At Diagnosis: 1
Reference Assay Results: Assay:
unknown
Phenotype: Country: Japanese Sex: M Age At Diagnosis: 6
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Japanese Sex: M Age At Diagnosis: 6
Reference Assay Results: Assay:
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 5.3
Reference Assay Results: 0.018 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Country: Asian-multiethnic Sex: Age At Diagnosis: 8
Reference Assay Results: 4 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: Age At Diagnosis: 7
Reference Assay Results: 6 Assay:
unknown
Phenotype: Country: South-East Asian Sex: Age At Diagnosis: 2
Reference Assay Results: 0 Assay:
Phenotype: Severe Country: Brazilian Sex: F Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Mild Country: Irish/German Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Rapidly progressing Country: Spanish Sex: M Age At Diagnosis: 3
Reference Assay Results: 0.02 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
Phenotype: Severe Country: Spanish Sex: M Age At Diagnosis: 2
Reference Assay Results: Assay:
Phenotype: Severe Country: American black, American caucasian Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Turkish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Turkish Sex: M Age At Diagnosis:
Reference Assay Results: 3 Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis: 3
Reference Assay Results: 6 Assay:
unknown
Phenotype: Country: Afghan Sex: F Age At Diagnosis: 7
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Afghan Sex: F Age At Diagnosis: 7
Reference Assay Results: Assay:
unknown
Phenotype: Country: Canadian Sex: Age At Diagnosis: 4.7
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
unknown
Phenotype: Country: Japanese Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 1.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Japanese Sex: F Age At Diagnosis: 4
Reference Assay Results: Assay:
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 8.27 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 6.4 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Country: Korean Sex: F Age At Diagnosis: 6
Reference Assay Results: 585.2 CPC unit/g Cr Assay: Uninary GAG (WT range: <175 CPC unit/g Cr
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 0.3 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: <0.1 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Country: Korean Sex: F Age At Diagnosis: 5
Reference Assay Results: 192.7 CPC unit/g Cr Assay: Uninary GAG (WT range: <175 CPC unit/g Cr
Phenotype: Country: Korean Sex: F Age At Diagnosis: 2
Reference Assay Results: Assay:
Phenotype: Country: Korean Sex: F Age At Diagnosis: 17
Reference Assay Results: 133.3 CPC unit/g Cr Assay: Uninary GAG (WT range: <85 CPC unit/g Cr
unknown
Phenotype: Severe Country: Japanese Sex: F Age At Diagnosis: 2
Reference Assay Results: Assay:
unknown
Phenotype: Country: Japanese Sex: M Age At Diagnosis: 2
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Pakistani Sex: F Age At Diagnosis: 2
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Pakistani Sex: M Age At Diagnosis: birth
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Pakistani Sex: M Age At Diagnosis: 2.9
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis: 4
Reference Assay Results: 1.5 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Moderate Country: Spanish Sex: M Age At Diagnosis: 7
Reference Assay Results: 1.83 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in leukocytes (44-260 nmol/17*mg prot)
unknown
Phenotype: Severe Country: Bulgarian Sex: m? Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 10.7
Reference Assay Results: 0.024 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Dutch/Irish/Scottish Sex: F Age At Diagnosis:
Reference Assay Results: 899 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Middle Eastern Sex: F Age At Diagnosis: 2
Reference Assay Results: Low GALNS Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Saudi Arabia Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Saudi Arabia Sex: F Age At Diagnosis: 0.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Saudi Arabia Sex: F Age At Diagnosis: 0.5
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: American caucasian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Chinese Sex: M Age At Diagnosis: 15
Reference Assay Results: 0.029 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Country: Other Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Country: Brazilian Sex: F Age At Diagnosis: 9
Reference Assay Results: 0.009 nmol/h/mg protein Assay: GALNS enz activity, dimethylmethyleneblue method
unknown
Phenotype: Country: Brazilian Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: British Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Irish/Danish_x0001__x0001_ Sex: F Age At Diagnosis:
Reference Assay Results: 714 Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: German Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 9.4
Reference Assay Results: 0.029 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Mild Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Lebanese Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Turkish Sex: M Age At Diagnosis:
Reference Assay Results: 6 Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.42 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Severe Country: Sex: ? Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Sex: M Age At Diagnosis: 1
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Severe Country: Middle Eastern Sex: F Age At Diagnosis: 12
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: New Zealander Sex: F Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 5.2
Reference Assay Results: Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Japanese Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Mild Country: Japanese Sex: M Age At Diagnosis: 25
Reference Assay Results: <2% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Mild Country: Japanese Sex: M Age At Diagnosis: 29
Reference Assay Results: <2% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: American caucasian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Sex: Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Severe Country: Italian Sex: M Age At Diagnosis:
Reference Assay Results: 0.06 Assay: Enzyme activity
Phenotype: Country: Greek Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 3.5
Reference Assay Results: 0.182 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 4 Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis:
Reference Assay Results: 8 Assay:
unknown
Phenotype: Severe Country: Pakistani Sex: F Age At Diagnosis: 1.25
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 2
Reference Assay Results: 0 Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 3
Reference Assay Results: 3 Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 6
Reference Assay Results: 3 Assay:
Phenotype: Severe Country: German/Polish Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Polish Sex: M Age At Diagnosis: 1.7
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Chinese Sex: F Age At Diagnosis: 3.7
Reference Assay Results: 0.012 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.4 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.39 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis: 3.8
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Norwegian Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: American caucasian Sex: F Age At Diagnosis: 5
Reference Assay Results: Assay:
Phenotype: Severe Country: American caucasian, German/Swedish Sex: F Age At Diagnosis: 2.6
Reference Assay Results: Assay:
unknown
Phenotype: Country: Australian Sex: Age At Diagnosis: 1.1
Reference Assay Results: 0.8 Assay:
unknown
Phenotype: Country: German Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: British Sex: F Age At Diagnosis: 4
Reference Assay Results: 6 Assay:
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 3.1‡ Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Country: British Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Pakistani Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Pakistani Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Pakistani Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Pakistani Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: American caucasian Sex: M Age At Diagnosis: 5
Reference Assay Results: Assay:
Phenotype: Moderate Country: Spanish Sex: F Age At Diagnosis: 9
Reference Assay Results: 0.03 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
Phenotype: Rapidly progressing Country: Spanish Sex: F Age At Diagnosis: 2
Reference Assay Results: Not available Assay:
unknown
Phenotype: Rapidly progressing Country: Spanish Sex: M Age At Diagnosis: 3
Reference Assay Results: Not available Assay:
unknown
Phenotype: Severe Country: Polish Sex: F Age At Diagnosis: 2
Reference Assay Results: Assay:
Phenotype: Mild Country: Polish Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Mild Country: Polish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Intermediate Country: Polish Sex: F Age At Diagnosis:
Reference Assay Results: 0.35 Assay: GALNS leuk enz assay (WT 6.8-20.8)
Phenotype: Intermediate Country: Polish Sex: M Age At Diagnosis:
Reference Assay Results: 0.28 Assay: GALNS leuk enz assay (WT 6.8-20.8)
unknown
Phenotype: Mild Country: Polish Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Hispanic Sex: F Age At Diagnosis: 1.5
Reference Assay Results: 0.05 Assay: GALNS in cultured skin fibroblast (University of Alabama Birmingham); Control was listed as 0.7
Phenotype: Rapidly progressing Country: Spanish Sex: M Age At Diagnosis: 3
Reference Assay Results: 0.02 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
Phenotype: Country: British Sex: M Age At Diagnosis: 2
Reference Assay Results: 4 Assay:
unknown
unknown
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 2.4
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Mild Country: Dutch Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: British Sex: F Age At Diagnosis: 3
Reference Assay Results: 5 Assay:
unknown
Phenotype: Attenuated Country: Turkish Sex: F Age At Diagnosis: 6.5
Reference Assay Results: Assay:
Phenotype: Country: British Sex: M Age At Diagnosis: 5
Reference Assay Results: 4 Assay:
unknown
Phenotype: Severe Country: Sex: M Age At Diagnosis: 2
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: American caucasian, British/German/Portuguese Sex: M Age At Diagnosis: 0.6
Reference Assay Results: Assay:
Phenotype: Country: Greek Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Polish Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe (changed from Slowly progressing) Country: Spanish Sex: M Age At Diagnosis: 27
Reference Assay Results: 0.01 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in leukocytes (44-260 nmol/17*mg prot)
unknown
Phenotype: Severe Country: Macedonian Sex: M Age At Diagnosis: 4.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Middle Eastern Sex: Age At Diagnosis: 1.5
Reference Assay Results: 11 Assay:
unknown
Phenotype: Country: Middle Eastern Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Mild Country: Austrian Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Severe Country: Irish/Italian/Polish Sex: F Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Country: Turkish Sex: M Age At Diagnosis:
Reference Assay Results: 5 Assay:
Phenotype: Country: New Zealander Sex: Age At Diagnosis: 1.8
Reference Assay Results: 0 Assay:
unknown
Phenotype: Attenuated Country: Chinese Sex: F Age At Diagnosis: 8.1
Reference Assay Results: 0.159 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 10.1
Reference Assay Results: 0.018 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis:
Reference Assay Results: 379 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: Pakistani Sex: M Age At Diagnosis: 0.3
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis:
Reference Assay Results: 0 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 3
Reference Assay Results: 6 Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Mild Country: French Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.25 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Ukrainian Sex: F Age At Diagnosis: 6
Reference Assay Results: Assay:
unknown
Phenotype: Country: Lebanese Sex: ? Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Czech/German/Irish/Polish Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Mexican/Lebanese Sex: M Age At Diagnosis:
Reference Assay Results: 1388 Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Moderate Country: Spanish Sex: F Age At Diagnosis: 6
Reference Assay Results: 0.1 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
Phenotype: Country: Australian Sex: Age At Diagnosis: 1.6
Reference Assay Results: 1.4 Assay:
Phenotype: Country: Australian Sex: Age At Diagnosis: 1.6
Reference Assay Results: 1.3 Assay:
unknown
Phenotype: Severe Country: Moroccan Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Portugese Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: French Sex: F Age At Diagnosis:
Reference Assay Results: 617 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Moderate Country: African-Varied Sex: M Age At Diagnosis: 5
Reference Assay Results: 0.02 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
Phenotype: Severe Country: American caucasian Sex: F Age At Diagnosis: 0.5
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis: 5.7
Reference Assay Results: Assay:
unknown
Phenotype: Rapidly progressing Country: Portuguese Sex: F Age At Diagnosis: 2
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Rapidly progressing/ moderate Country: Portuguese Sex: M Age At Diagnosis: 1
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Rapidly progressing/ moderate Country: Portuguese Sex: M Age At Diagnosis: 1
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
Phenotype: Moderate Country: Spanish Sex: F Age At Diagnosis: 4
Reference Assay Results: 0.25 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 7.4
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 4.5
Reference Assay Results: Low GALNS Assay:
Phenotype: Rapidly progressing Country: Spanish Sex: F Age At Diagnosis: 2
Reference Assay Results: 0.18 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: French_x0001__x0001_ Sex: M Age At Diagnosis:
Reference Assay Results: 802 Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: 609 Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: 487 Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 3.8
Reference Assay Results: 0.029 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Mild Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Mild Country: British/Irish Sex: M Age At Diagnosis: 4
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: Irish Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Intermediate Country: British/Irish Sex: F Age At Diagnosis: 8
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: Irish Sex: F Age At Diagnosis: 7
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Canadian caucasian, Irish/English Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: M Age At Diagnosis: 6.1
Reference Assay Results: 0 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 9
Reference Assay Results: 0.012 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Other Sex: M Age At Diagnosis: 3
Reference Assay Results: 4 Assay:
unknown
Phenotype: Country: Taiwanese Sex: Age At Diagnosis: 11
Reference Assay Results: 0 Assay:
unknown
Phenotype: Country: South-East Asian Sex: Age At Diagnosis: 5.4
Reference Assay Results: Assay:
Phenotype: Severe Country: Chinese Sex: F Age At Diagnosis: 4
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Japanese Sex: F Age At Diagnosis: 1
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Mild Country: Chinese Sex: M Age At Diagnosis: 14.3
Reference Assay Results: 0.018 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Chinese Sex: F Age At Diagnosis: 6.1
Reference Assay Results: 0.018 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Attenuated Country: Canadian caucasian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: Dutch Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 1.43 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 0.2 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
Phenotype: Country: Korean Sex: F Age At Diagnosis: 8
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Severe Country: Italian Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Norwegian Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 5
Reference Assay Results: 0.141 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Chinese Sex: F Age At Diagnosis: 5.9
Reference Assay Results: 0.094 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 4.2
Reference Assay Results: 0.124 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Brazilian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Sri Lankan Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Sri Lankan Sex: F Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Japanese Sex: F Age At Diagnosis: 36
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
Phenotype: Severe Country: Vietnam Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 1
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.17 Assay: Enzyme activity
Phenotype: Moderate Country: Spanish Sex: M Age At Diagnosis: 11
Reference Assay Results: 0.1 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
unknown
Phenotype: Country: German Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Rapidly progressing Country: Portuguese Sex: M Age At Diagnosis: 10
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
Phenotype: Severe Country: Irish Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Severe Country: British/Irish Sex: M Age At Diagnosis: 1
Reference Assay Results: Assay:
unknown
Phenotype: Rapidly progressing Country: Cape Verdean Sex: M Age At Diagnosis: 3
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 13
Reference Assay Results: 0.4 Assay:
Phenotype: Mild Country: Argentine Sex: M Age At Diagnosis:
Reference Assay Results: 89 Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Mild Country: Argentine Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Portuguese Sex: F Age At Diagnosis: 16
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
Phenotype: Moderate Country: Spanish Sex: M Age At Diagnosis: 4
Reference Assay Results: 5.07 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in leukocytes (44-260 nmol/17*mg prot)
Phenotype: Severe Country: Polish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Turkish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Polish Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: British Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.16 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.16 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Italian Sex: F Age At Diagnosis:
Reference Assay Results: 0.17 Assay: Enzyme activity
unknown
Phenotype: Severe Country: Argentine Sex: F Age At Diagnosis:
Reference Assay Results: 319 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Argentine Sex: M Age At Diagnosis:
Reference Assay Results: NA Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Chilean Sex: M Age At Diagnosis:
Reference Assay Results: 1112 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Colombian Sex: F Age At Diagnosis:
Reference Assay Results: 291 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Rapidly progressing Country: Spanish Sex: F Age At Diagnosis: 2
Reference Assay Results: 0.02 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
unknown
Phenotype: Severe Country: American caucasian, Hispanic/Greek Sex: F Age At Diagnosis: 1.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Moderate Country: Spanish Sex: M Age At Diagnosis: 4
Reference Assay Results: 0.02 Assay: Fluorimetric assay with 4-methylumbelliferyl-b-galactoside-6-sulphate triethylammonium as substrate in fibroblasts (85-272 nmol/17*mg prot)
Phenotype: Severe Country: Chilean Sex: M Age At Diagnosis:
Reference Assay Results: 1165 Assay: Plasma KS (WT 15–240 ng/ml)
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: French Sex: M Age At Diagnosis: 3
Reference Assay Results: Assay:
Phenotype: Slowly progressing Country: Portuguese Sex: M Age At Diagnosis: 5
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
Phenotype: Severe Country: German Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Slowly progressing Country: Spanish Sex: M Age At Diagnosis:
Reference Assay Results: Not available Assay:
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 4
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis:
Reference Assay Results: <1% WT Assay: Leukocyte GALNS enz
unknown
Phenotype: Mild Country: Argentine Sex: M Age At Diagnosis:
Reference Assay Results: 227 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Mild Country: Argentine Sex: M Age At Diagnosis:
Reference Assay Results: 152 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Brazilian Sex: F Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Colombian Sex: M Age At Diagnosis:
Reference Assay Results: 257 Assay: Plasma KS (WT 15–240 ng/ml)
unknown
Phenotype: Severe Country: Mexican Sex: M Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Intermediate Country: Chinese Sex: M Age At Diagnosis: 32.5
Reference Assay Results: 0.094 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Turkish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis: 27
Reference Assay Results: 3 Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 48.2
Reference Assay Results: clinical + KS in urine Assay:
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 8.9
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 58.3
Reference Assay Results: Stated to be affected by MPS IVA Assay:
Phenotype: Mild Country: Irish/German/Swedish Sex: F Age At Diagnosis:
Reference Assay Results: 760 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Mild Country: French_x0001__x0001_ Sex: F Age At Diagnosis:
Reference Assay Results: 582 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Mild Country: French_x0001__x0001_ Sex: M Age At Diagnosis:
Reference Assay Results: 577 Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: American caucasian, German Sex: F Age At Diagnosis: 6.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: French Canadian Sex: Age At Diagnosis: 40.8
Reference Assay Results: Low GALNS Assay:
Phenotype: Attenuated Country: Canadian caucasian Sex: M Age At Diagnosis: 3.8
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Canadian caucasian Sex: F Age At Diagnosis: 0.8
Reference Assay Results: Assay:
unknown
Phenotype: Country: Canadian caucasian Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 4
Reference Assay Results: 5 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis: 3
Reference Assay Results: 9 Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 3
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 2.9 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
unknown
Phenotype: Mild Country: Pakistani Sex: M Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Mild Country: Pakistani Sex: F Age At Diagnosis:
Reference Assay Results: Assay: Plasma KS (WT 20-240 ng/ml)
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: German Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: British Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: Dutch Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 0.2 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
unknown
Phenotype: Severe Country: French Sex: f Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Portuguese Sex: M Age At Diagnosis: 15
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
unknown
Phenotype: Country: Asian-multiethnic Sex: M Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Asian-multiethnic Sex: F Age At Diagnosis:
Reference Assay Results: Low GALNS Assay:
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 4.7
Reference Assay Results: 0.012 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
unknown
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 6.6
Reference Assay Results: 0.012 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 12
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
Phenotype: Country: Japanese Sex: M Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Severe Country: Japanese Sex: F Age At Diagnosis: 20
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 3
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 11.5
Reference Assay Results: 0.088 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Severe Country: Chinese Sex: M Age At Diagnosis: 5
Reference Assay Results: 0.053 Assay: GALNS activity (WT 4.57–9.36nmol h 1 per mg protein)
Phenotype: Attenuated Country: Canadian caucasian Sex: F Age At Diagnosis: 4.5
Reference Assay Results: Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis:
Reference Assay Results: 0.37 Assay: GALNS enz activity (WT 38.5-166 pmol/min/mg protein)
Phenotype: Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Severe Country: Middle Eastern Sex: F Age At Diagnosis: 13
Reference Assay Results: Assay:
Phenotype: Attenuated Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 9
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Severe Country: Turkish Sex: m Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Turkish Sex: Age At Diagnosis: 4
Reference Assay Results: 2 Assay:
unknown
Phenotype: Severe Country: Middle Eastern Sex: M Age At Diagnosis: 4
Reference Assay Results: Low GALNS Assay:
unknown
Phenotype: Country: Moroccan Sex: F Age At Diagnosis: 11
Reference Assay Results: 0 Assay: 4-methylumbelliferyl-β-D-galactopyranoside-6-sulfate (4MUGal6S); control range in leucocytes 0,41-1,3nmol/h/mg protein
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
Phenotype: Country: Chinese Sex: F Age At Diagnosis:
Reference Assay Results: 8.3 nmol/17h/mg pr Assay: GALNS enz activity (WT 41.9-92.1 nmol/17h/mg pr)
unknown
Phenotype: Severe Country: Korean Sex: Age At Diagnosis:
Reference Assay Results: 0.78 Assay: Leukocyte GALNS enzyme activity (WT 39 to 166 pmol/min/mg protein)
unknown
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Iraqi Sex: M Age At Diagnosis: 4.3
Reference Assay Results: Assay:
unknown
Phenotype: Severe Country: Iraqi Sex: F Age At Diagnosis: 1.7
Reference Assay Results: Assay:
unknown
Phenotype: Intermediate Country: Japanese Sex: M Age At Diagnosis: 6
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 4
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 3
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
unknown
Phenotype: Severe Country: Japanese Sex: M Age At Diagnosis: 5
Reference Assay Results: <1% Assay: GALNS activity fibroblast homogenates
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Country: Chinese Sex: Age At Diagnosis:
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Attenuated Country: Korean Sex: M Age At Diagnosis: 27
Reference Assay Results: Low GALNS Assay: GALNS activity
Phenotype: Country: Caucasian Sex: F Age At Diagnosis: 3.5
Reference Assay Results: Low GALNS Assay: GALNS activity
unknown
Phenotype: Country: Caucasian Sex: M Age At Diagnosis: 10
Reference Assay Results: Assay:
unknown
unknown
Phenotype: Country: Sex: Age At Diagnosis:
Reference Assay Results: Assay: