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Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

We report a 9-year-old boy with lysinuric protein intolerance (LPI). He had developmental delay, short stature, failure to thrive, high-protein food aversion, hypothyroidism, growth hormone deficiency, features of hemophagocytic lymphohistiocytosis (HLH), decreased bone mineral density and multiple...

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Detalles Bibliográficos
Autores principales:	Al-Qattan, Sarah, Malcolmson, Caroline, Mercimek-Andrews, Saadet
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973239/ https://www.ncbi.nlm.nih.gov/pubmed/33763330 http://dx.doi.org/10.1016/j.ymgmr.2021.100741

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