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Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
BACKGROUND: Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder involving the metabolism of organic acids. METHODS: Here, we report the case of a patient who developed acute metabolic crisis after vaccination and was diagnosed with cblA type MMA after hospitalization. RESULTS: Fu...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978399/ https://www.ncbi.nlm.nih.gov/pubmed/31793236 http://dx.doi.org/10.1002/mgg3.1063 |