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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Huvudupphovsmän: Kluijtmans, L A, Boers, G H, Kraus, J P, van den Heuvel, L P, Cruysberg, J R, Trijbels, F J, Blom, H J
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1999
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Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378075/
https://ncbi.nlm.nih.gov/pubmed/10364517
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