Biotin-responsive Multiple Carboxylase Deficiency (MCD).
Sign Up to like & getrecommendations! 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
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency
Sign Up to like & getrecommendations! 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