Associated Papers
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.
Vlachavas EI et al.
Molecular Oncology, 2025
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K et al.
Pediatrics, 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
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
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
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
Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis.
Couce ML et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
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
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
Fernández-Guerra P et al.
Molecular Genetics & Genomic Medicine, 2014
Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
Hou JW et al.
Pediatrics and Neonatology, 2014
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
Yang N et al.
Molecular Genetics and Metabolism, 2012
Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.
Quental S et al.
Annals of Human Genetics, 2009
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S et al.
Molecular Genetics and Metabolism, 2008
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006
MAPLE SYRUP DISEASE AND OTHER RARE DISORDERS OF AMINO ACID METABOLISM.
MENKES JH
Clinical Proceedings - Children's Hospital of the District of Columbia, 1964