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• W2100382097 abstract "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 acid transporter B(0)AT1 (SLC6A19). To date 21 mutations have been identified in more than twenty families. SLC6A19 requires either collectrin or angiotensin-converting enzyme 2 for surface expression in the kidney and intestine, respectively. This ties SLC6A19 together with more complex functions such as blood-pressure control, glomerular structure, and exocytosis." @default.
• W2100382097 created "2016-06-24" @default.
• W2100382097 creator A5074021013 @default.
• W2100382097 date "2009-05-26" @default.
• W2100382097 modified "2023-10-15" @default.
• W2100382097 title "The role of the neutral amino acid transporter B⁰AT1 (SLC6A19) in Hartnup disorder and protein nutrition" @default.
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• W2100382097 doi "https://doi.org/10.1002/iub.210" @default.
• W2100382097 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7165679" @default.
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• W2100382097 hasPublicationYear "2009" @default.
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