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Arginase deficiency masked by cerebral palsy and coagulopathy—Three varied presentations of Latin American origin
Arginase deficiency (ARG1‐D) is an autosomal recessive inborn error of metabolism that is often misdiagnosed. Classic presentation of ARG1‐D includes progressive symptoms of spasticity, delayed development, cognitive impairment, protein avoidance, and seizures. Patients who present atypically may ev...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623097/ https://www.ncbi.nlm.nih.gov/pubmed/37927486 http://dx.doi.org/10.1002/jmd2.12397 |