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The role of the neutral amino acid transporter B(0)AT1 (SLC6A19) in Hartnup disorder and protein nutrition
Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo‐sensitive skin‐rash and cerebellar ataxia. The disorder is caused by mutations in the neutral amino ac...
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| Publicado no: | IUBMB Life |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley Subscription Services, Inc., a Wiley company
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7165679/ https://ncbi.nlm.nih.gov/pubmed/19472175 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/iub.210 |
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