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

Seung Hoon LeeJung Min KoMi Kyoung SongJunghan SongKyung Sun Park
Published in: Molecular genetics & genomic medicine (2020)
MA can be diagnosed using newborn screening; however, negative results do not exclude the possibility of disease. Metabolic screening for differential diagnosis of infantile DCMP is recommended to rule out rare, but manageable, metabolic cardiomyopathies.
Keyphrases
  • mental health