Articles with "biotin responsive" as a keyword



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Biotin-responsive Multiple Carboxylase Deficiency (MCD).

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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… read more here.

Keywords: multiple carboxylase; biotin responsive; carboxylase deficiency; responsive multiple ... See more keywords