Associated Papers
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
Lakkhana P et al.
Orphanet Journal of Rare Diseases, 2024
A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.
Rezaie N et al.
Molecular Biology Research Communications, 2024
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Zeynalzadeh M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
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