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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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| 發表在: | IUBMB Life |
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| 主要作者: | |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Wiley Subscription Services, Inc., a Wiley company
2009
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| 主題: | |
| 在線閱讀: | 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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