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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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| Veröffentlicht in: | Mol Genet Metab Rep |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2019
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| Schlagworte: | |
| Online Zugang: | 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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