Deficiency of lysosomal hydrolases in apparently healthy individuals
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference40 articles.
1. Pseudodeficiency of α-galactosidase A
2. Low arylsulphatase A activity in a family without metachromatic leukodystrophy
3. Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses
4. (1978): Fabry's disease. In and (eds) “The Metabolic Basis of Inherited Disease.” 4th ed. New York: McGraw-Hill Co, pp 810-840.
5. Absence of Hexosaminidase a and B in a Normal Adult
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4. A family with pseudodeficiency of acid α-glucosidase;Clinical Genetics;2008-06-28
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