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...

Descripción completa

Detalles Bibliográficos
Autores principales: Alqarajeh, Firas, Omorodion, Jacklyn, Bosfield, Kerri, Shur, Natasha, Ferreira, Carlos R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2020
Materias:
Research Article
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

Internet

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

Ejemplares similares