"Pseudodeficiencies" of lysosomal hydrolases.
- 1 June 1994
- journal article
- review article
- Vol. 54 (6), 934-40
Abstract
No abstract availableThis publication has 53 references indexed in Scilit:
- Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counselingAnnals of Neurology, 1993
- First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative studyPrenatal Diagnosis, 1992
- Molecular basis of hexosamininidase a deficiency and pseudodeficiency in the Berks County Pennsylvania DutchHuman Mutation, 1992
- Lowβ‐glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VIIJournal of Inherited Metabolic Disease, 1991
- Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophyEuropean Journal of Pediatrics, 1991
- Population frequency of the arylsulphatase A pseudo-deficiency alleleHuman Genetics, 1991
- Aryl sulfatase A deficiency in psychiatric and neurologic patientsAmerican Journal of Medical Genetics, 1987
- Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cellsPrenatal Diagnosis, 1985
- Deficiency of lysosomal hydrolases in apparently healthy individualsAmerican Journal of Medical Genetics, 1983
- Possible misdiagnosis of Krabbe diseaseThe Journal of Pediatrics, 1976