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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K et al.
Pediatrics, 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: Characteristics of diagnosis and treatment in 45 patients in Chile.
Medina MF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Campanholi DRR et al.
Molecular Genetics & Genomic Medicine, 2021
Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.
Mao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening.
Yang C et al.
Gene, 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
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