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Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literature
Background: Lysinuric protein intolerance (LPI; MIM# 222700) is a rare metabolic disorder caused by a defective cationic amino acids (CAA) membrane transport leading to decreased circulating plasma CAA levels and resulting in dysfunction of the urea cycle. Short stature is commonly observed in child...
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| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4501240/ https://ncbi.nlm.nih.gov/pubmed/25614305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_362 |
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