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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144596/ https://www.ncbi.nlm.nih.gov/pubmed/30271473 http://dx.doi.org/10.4103/JPN.JPN_79_17 |