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Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations – including spastic diplegia, deterioration in cognitive function, and epilepsy – appear in later ch...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839826/ https://www.ncbi.nlm.nih.gov/pubmed/29443755 http://dx.doi.org/10.1097/MD.0000000000009880 |