Associated Papers
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.
Miragaia P et al.
Cureus, 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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Identification of gene mutations in six Chinese patients with maple syrup urine disease.
Li L et al.
Frontiers in Genetics, 2023
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 in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB et al.
Orphanet Journal of Rare Diseases, 2020
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH et al.
World Journal of Pediatrics : Wjp, 2020
[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Sun WH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park HD et al.
Annals of Clinical and Laboratory Science, 2011
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