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
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
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB et al.
Orphanet Journal of Rare Diseases, 2020
An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.
Li Y et al.
Stem Cell Research, 2019
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
Scaini G et al.
Journal of Inherited Metabolic 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
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
Living related versus deceased donor liver transplantation for maple syrup urine disease.
Feier F et al.
Molecular Genetics and Metabolism, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Successful domino liver transplantation in maple syrup urine disease using a related living donor.
Feier FH et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2014
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Flaschker N et al.
Journal of Inherited Metabolic Disease, 2007
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