Associated Papers
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
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
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Chen T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.
Nguyen TTN et al.
Molecular Genetics & Genomic Medicine, 2020
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.
Abiri M et al.
Metabolic Brain Disease, 2019
In silico analysis of novel mutations in maple syrup urine disease patients from Iran.
Abiri M et al.
Metabolic Brain Disease, 2017
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