Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
Tejedor JR et al.
Journal of Inherited Metabolic Disease, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K et al.
Pediatrics, 2024
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Molecular basis of various forms of maple syrup urine disease in Chilean patients.
Campanholi DRR et al.
Molecular Genetics & Genomic Medicine, 2021
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB et al.
Orphanet Journal of Rare Diseases, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
Scaini G et al.
Journal of Inherited Metabolic Disease, 2018
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Triggs-Raine B et al.
Molecular Genetics & Genomic Medicine, 2016
Living related versus deceased donor liver transplantation for maple syrup urine disease.
Feier F et al.
Molecular Genetics and Metabolism, 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
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
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006