Associated Papers
Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Jafari M et al.
Molecular Biology Reports, 2025
Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.
Younes S et al.
Bmc Medical Genomics, 2025
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
Abdelkhalek ZS et al.
Scientific Reports, 2024
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Imtiaz F et al.
Molecular Genetics and Metabolism Reports, 2017
Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Georgiou T et al.
Genetic Testing and Molecular Biomarkers, 2009
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