Problems in the clinical interpretation of arylsulfatase A deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference15 articles.
1. : Sulfatide lipidosis: metachromatic leukodystrophy. In (eds): “The Metabolic Basis of Inherited Disease.” 4th ed, New York: McGraw-Hill, 1978, pp 770-809.
2. Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy
3. Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy
4. Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Diagnosis of arylsulfatase A deficiency in intact cultured cells using a fluorescent derivative of cerebroside sulfate;Clinical Genetics;2008-06-28
2. Correlation of the dispersion state of pyrene cerebroside sulfate and its uptake and degradation by cultured cells;Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism;1989-03
3. Aryl sulfatase A deficiency in psychiatric and neurologic patients;American Journal of Medical Genetics;1987-03
4. Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.;Proceedings of the National Academy of Sciences;1983-12-01
5. Deficiency of lysosomal hydrolases in apparently healthy individuals;American Journal of Medical Genetics;1983-01
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