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Vision of correction for classic homocystinuria

Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase (CBS), and...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Autor Principal: Koeberl, Dwight D.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2016
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4887184/
https://ncbi.nlm.nih.gov/pubmed/27183384
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI88251
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