The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.
Goldenfum
S
S
Division of Biochemistry & Genetics, Institute of Child Health, London, UK.
Malcolm
S
S
Young
E
E
Winchester
B
B
D000483:Alleles; D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000172:deficiency* / Q000235:genetics; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D008297:Male
D002553:Cerebroside-Sulfatase