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.

Detalles Bibliográficos
Autores principales: Girisha, Katta Mohan, Shrikiran, Aroor, Bidchol, Abdul Mueed, Sakamoto, Osamu, Gopinath, Puthiya Mundyat, Satyamoorthy, Kapaettu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
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
Descripción
Sumario:We report on a girl with methylmalonic acidemia, cblA type with a novel homozygous mutation and describe the clinical phenotype and response to therapy.

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