The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of methionine metabolism. Its diverse clinical expression may include ectopia lentis, skeletal abnormalities, mental retardation, and premature arterioscl...

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Bibliografski detalji
Glavni autori: Kluijtmans, L A, Boers, G H, Kraus, J P, van den Heuvel, L P, Cruysberg, J R, Trijbels, F J, Blom, H J
Format: Artigo
Jezik:Inglês
Izdano: 1999
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378075/
https://ncbi.nlm.nih.gov/pubmed/10364517
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