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Glutaric Aciduria Type 1 with Microcephaly: Masquerading as Spastic Cerebral Palsy
Glutaric aciduria type 1 (GA-1) is an autosomal-recessive disorder caused by the deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase. A 13-month-old boy presented with microcephaly, developmental delay, and progressive spasticity and was being treated as spastic cerebral palsy, later o...
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| Publicado no: | J Pediatr Neurosci |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6144596/ https://ncbi.nlm.nih.gov/pubmed/30271473 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/JPN.JPN_79_17 |
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