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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Dades bibliogràfiques
Publicat a:Mol Genet Metab Rep
Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Research Paper
Accés en línia: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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