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Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder characterized by deficient membrane transport of cationic amino acids. It is caused by pathogenic variants in SLC7A7, resulting in impairment of intestinal import and renal proximal tubule loss of the affected ami...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
IOS Press
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590902/ https://www.ncbi.nlm.nih.gov/pubmed/33134088 http://dx.doi.org/10.3233/TRD-190035 |