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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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2021-06-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S2214426921000355 |
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