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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938934/ https://www.ncbi.nlm.nih.gov/pubmed/31908951 http://dx.doi.org/10.1016/j.ymgmr.2019.100551

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