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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
INTRODUCTION: Methylmalonic Aciduria (MMA) is a heterogeneous group of rare diseases leading to accumulation of methylmalonic acid in body fluids. One of the causes of the disease is the methylmalonic aciduria, cblA type (cblA – type MMA), conditioned by a mutation in the MMAA gene, which is essenti...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950841/ https://www.ncbi.nlm.nih.gov/pubmed/31921599 http://dx.doi.org/10.1016/j.ymgmr.2019.100559 |