Inheritance of the enzyme defect in a new hexosaminidase deficiency disease
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference29 articles.
1. Heterogeneity of human hepatic H-acetyl-beta-D-hexosaminidose. A activity toward natural glycosphingolipid substrates.
2. Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes
3. Cardiac involvement in Sandhoff's disease
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1. Late-onset Hexosaminidase A and Hexosaminidase A and B Deficiency: Family Study and Review;Developmental Medicine & Child Neurology;2008-11-12
2. Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;1986
3. Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult sandhoff disease) in French Canadians;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;1984-11
4. Prenatal diagnosis of atypical tay-sachs disease by chorionic villi sampling;Prenatal Diagnosis;1984-09
5. Gangliosides and Disease: A Review;Advances in Experimental Medicine and Biology;1984
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