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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Egile Nagusiak: Kluijtmans, L A, Boers, G H, Kraus, J P, van den Heuvel, L P, Cruysberg, J R, Trijbels, F J, Blom, H J
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1999
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378075/
https://ncbi.nlm.nih.gov/pubmed/10364517
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