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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