The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment-Reference-Cited by-同舟云学术

The Molecular Basis of Cystathionine β-Synthase Deficiency in Dutch Patients with Homocystinuria: Effect of CBS Genotype on Biochemical and Clinical Phenotype and on Response to Treatment

Published:1999-07 Issue:1 Volume:65 Page:59-67
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kluijtmans Leo A.J.,Boers Godfried H.J.,Kraus Jan P.,van den Heuvel Lambert P. W.J.,Cruysberg Johan R.M.,Trijbels Frans J.M.,Blom Henk J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts;Boers;Hum Genet,1985

2. Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years;Boers;J Clin Invest,1983

3. The response of patients with cystathionine synthase deficiency to pyridoxine;Brenton,1971

4. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland;Carson;Arch Dis Child,1962

5. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

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