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...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Main Authors: Kluijtmans, L A, Boers, G H, Kraus, J P, van den Heuvel, L P, Cruysberg, J R, Trijbels, F J, Blom, H J
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1999
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378075/
https://ncbi.nlm.nih.gov/pubmed/10364517
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla