Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

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...

Full description

Bibliographic Details
Main Authors: Dorota Wesół-Kucharska, Magdalena Kaczor, Magdalena Pajdowska, Ewa Ehmke vel Emczyńska-Seliga, Anna Bogdańska, Dariusz Kozłowski, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Dariusz Rokicki
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426919302228

Internet

http://www.sciencedirect.com/science/article/pii/S2214426919302228

Similar Items