The Molecular Defect in a Case of (Cystathionine beta-Synthase)-Deficient Homocystinuria
Author:
Publisher
Wiley
Subject
Biochemistry
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1432-1033.1977.tb11390.x/fullpdf
Reference21 articles.
1. Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency
2. 3. L. E. Rosenberg, V. A. McKusick, and R. Claiborne (1973 ) inMedical Genetics () pp.73 -78 , H. P. Publishing Co., Inc., New York.
3. Cystathionine Synthase in Tissue Culture Derived from Human Skin: Enzyme Defect in Homocystinuria
4. Studies on Normal and Mutant Cystathionine β-Synthase from Cultured Skin Fibroblasts
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1. Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research;American Journal of Physiology-Heart and Circulatory Physiology;2011-01
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3. Purification and characterization of methylenetetrahydrofolate reductase from human cadaver liver;Biochemical Medicine and Metabolic Biology;1990-06
4. Inherited Disorders of Sulfur Metabolism;Biochemistry of Sulfur;1986
5. Homocystinuria Clinical, Biochemical and Genetic Aspects of Cystathionine β-synthase and its Deficiency in Man;Acta Paediatrica;1985-10
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