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Published in 2022 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
DOI: 10.29271/jcpsp.2022.06.823
Abstract: This study aimed to determine the clinical spectrum and biochemical findings on urine organic acids (UOA) in Biotin-responsive multiple carboxylase deficiency (MCD) patients presenting to the biochemical genetics laboratory (BGL). Patients reported as MCD, from…
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Keywords:
multiple carboxylase;
biotin responsive;
carboxylase deficiency;
responsive multiple ... See more keywords
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Published in 2022 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2022.2022-1-127
Abstract: Aims: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD). Methods: Thirty-one patients with RR-MADD admitted to our hospital from January 2005 to November 2020 were enrolled,…
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Keywords:
multiple acyl;
riboflavin responsive;
coa dehydrogenase;
patients riboflavin ... See more keywords