Article
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
American journal of medical genetics. Part A - 1 Nov 2020
Khalifa Ola A, Imtiaz Faiqa, Ramzan Khushnooda, Zaki Osama, Gamal Radwa, Elbaik Lina, Rihan Shaimaa, Salam Ehab, Abdul-Mawgoud Rehab, Hassan Magdy, Hassan Nahla, Saleh Eman, Seoudi Dina, Moustafa Amr S
Abstract excerpt
Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder due to defects in the branched-chain α-ketoacid dehydrogenase complex (BCKDC). MSUD varies in severity and its clinical spectrum is quite broad, ranging from mild to severe phenotypes. Thirty-three MSUD patients were recruited into this study for molecular genetic variant profiling and genotype-phenotype correlation. Except for one...
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