Case report: A novel 5'-UTR-exon1-intron1 deletion in MLYCD in an IVF child with malonyl coenzyme A decarboxylase deficiency and literature review
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DOI: 10.3389/fmed.2023.1160879
Abstract: The subject of the study is an 11-month old IVF baby girl with the typical clinical manifestation of malonyl coenzyme A decarboxylase deficiency, including developmental delay, limb weakness, cardiomyopathy, and excessive excretion of malonic acid… read more here.
Keywords: malonyl coenzyme; coenzyme decarboxylase; decarboxylase deficiency; utr exon1 ... See more keywords