Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

BACKGROUND: Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin. Some of these mutations may be cobalamin responsive. The type of methylmalonic aciduria c...

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Detalles Bibliográficos
Autores principales: Brennerová, Katarína, Škopková, Martina, Ostrožlíková, Mária, Šaligová, Jana, Staník, Juraj, Bzdúch, Vladimír, Gašperíková, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675494/
https://www.ncbi.nlm.nih.gov/pubmed/34915869
http://dx.doi.org/10.1186/s12887-021-03067-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675494/
https://www.ncbi.nlm.nih.gov/pubmed/34915869
http://dx.doi.org/10.1186/s12887-021-03067-3

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