Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency

Author:

Almási TímeaORCID,Guey Lin T.,Lukacs Christine,Csetneki Kata,Vokó Zoltán,Zelei Tamás

Funder

Moderna Inc.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference68 articles.

1. Morath M, Okun J, Müller I, et al. Neurodegeneration and chronic renal failure in methylmalonic aciduria—a pathophysiological approach. J Inherit Metab Dis. 2008;31:35–43.

2. Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. In GeneReviews®. Edited by Adam MP, Ardinger HH, Pagon RA, Wallace SE, bean LJH, Stephens K, Amemiya a. Seattle WA: University of Washington, Seattle; 1993.

3. Sloan JL, Carrillo N, Adams D, Venditti CP. Disorders of intracellular cobalamin metabolism. In GeneReviews®. Seattle: University of Washington; 2018.

4. Fraser JL, Venditti C. Methylmalonic and propionic acidemias: clinical management update. Curr Opin Pediatr. 2016;28:682–93.

5. Kölker S, Cazorla AG, Valayannopoulos V, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab Dis. 2015;38:1041–57.

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