A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy

BACKGROUND: Malonic aciduria (MA, OMIM#248360) is an extremely rare inherited metabolic disorder caused by the deficiency of malonyl‐CoA decarboxylase. The phenotype exhibited by patients with MA is variable, but may include symptoms, such as developmental delay in early childhood, seizures, vomitin...

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Detalles Bibliográficos
Autores principales: Lee, Seung Hoon, Ko, Jung Min, Song, Mi‐Kyoung, Song, Junghan, Park, Kyung Sun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507300/
https://www.ncbi.nlm.nih.gov/pubmed/32602666
http://dx.doi.org/10.1002/mgg3.1379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507300/
https://www.ncbi.nlm.nih.gov/pubmed/32602666
http://dx.doi.org/10.1002/mgg3.1379

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