Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio

INTRODUCTION: Hartnup disorder is caused by a deficiency of the sodium dependent B(0) AT1 neutral amino acid transporter in the proximal kidney tubules and jejunum. Biochemically, Hartnup disorder is diagnosed via amino acid excretion patterns. However, these patterns can closely resemble amino acid...

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Udgivet i:Mol Genet Metab Rep
Main Authors: Haijes, H.A., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jans, Judith J.M.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Research Paper
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6938934/
https://ncbi.nlm.nih.gov/pubmed/31908951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100551
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