Associated Papers
Advancing the Biochemical Understanding of Maple Syrup Urine Disease and the Impact of Liver Transplantation: A Pilot Study.
Fortis SP et al.
Journal of Proteome Research, 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
BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease.
Wang J et al.
Science Translational Medicine, 2025
Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.
Tu SC et al.
Jimd Reports, 2025
Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.
Abdelkhalek ZS et al.
Scientific Reports, 2024
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
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K et al.
Pediatrics, 2024
Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities.
Williams KB et al.
Journal of Community Genetics, 2023
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ et al.
American Journal of Medical Genetics. Part A, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 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
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
Guilder L et al.
Molecular Genetics and Metabolism Reports, 2021
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA et al.
American Journal of Medical Genetics. Part A, 2020
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA et al.
Molecular Genetics and Metabolism, 2020
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.
Ali EZ et al.
Molecular Genetics and Metabolism Reports, 2018
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M et al.
Clinical Genetics, 2016
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.
Abiri M et al.
Mutation Research, 2016
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Biochemical correlates of neuropsychiatric illness in maple syrup urine disease.
Muelly ER et al.
The Journal of Clinical Investigation, 2013
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
Yang N et al.
Molecular Genetics and Metabolism, 2012
Single nucleotide polymorphism detection by polymerase chain reaction-restriction fragment length polymorphism.
Ota M et al.
Nature Protocols, 2007
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
Gene preference in maple syrup urine disease.
Nellis MM et al.
American Journal of Human Genetics, 2001
MAPLE SYRUP DISEASE AND OTHER RARE DISORDERS OF AMINO ACID METABOLISM.
MENKES JH
Clinical Proceedings - Children's Hospital of the District of Columbia, 1964
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
Greig JA et al.
Molecular Genetics and Metabolism, 0