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Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656526/ https://www.ncbi.nlm.nih.gov/pubmed/23716945 http://dx.doi.org/10.4103/0971-6866.108025 |