Article

Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

2023-08-17

Abstract excerpt

<title>Abstract</title> <p>Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in <italic>ETFDH</italic>. Recent evidence of potential founder variants for MADD in the South African (SA) population, initiated this extensive investigation. As part of the ICGNMD study, we recr...

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Literature Corpus work: 78bd0852-e2ef-5cd8-8e4d-e839ff6fbb8a
DOI: 10.21203/rs.3.rs-3145586/v1

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