title: The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.
authors.affiliation: Division of Biochemistry & Genetics, Institute of Child Health, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Goldenfum
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
authors.forename: E
authors.initials: E
authors.lastname: Young
authors.forename: B
authors.initials: B
authors.lastname: Winchester
mesh_terms: 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
chemical_list: D002553:Cerebroside-Sulfatase