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An Expanding Spectrum of Complications in Isolated Methylmalonic Aciduria

Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years better understanding of th...

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Detalles Bibliográficos
Autores principales: Forny, Patrick, Grunewald, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518095/
https://www.ncbi.nlm.nih.gov/pubmed/33554499
http://dx.doi.org/10.34763/jmotherandchild.20202402si.2014.000003