Articles with "responsive multiple" 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
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Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency

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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,… read more here.

Keywords: multiple acyl; riboflavin responsive; coa dehydrogenase; patients riboflavin ... See more keywords