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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
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
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Fang X et al.
Scientific Reports, 2021
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
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li X et al.
Metabolic Brain Disease, 2018
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
Su L et al.
Metabolic Brain Disease, 2017
In silico analysis of novel mutations in maple syrup urine disease patients from Iran.
Abiri M et al.
Metabolic Brain Disease, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
Li X et al.
European Journal of Medical Genetics, 2015
A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
Miryounesi M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
Yang N et al.
Zhonghua Yi Xue Za Zhi, 2012
Select a paper to view details