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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2
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
35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006
Maple syrup urine disease: mutation analysis in Turkish patients.
Dursun A et al.
Journal of Inherited Metabolic Disease, 2002
Gene preference in maple syrup urine disease.
Nellis MM et al.
American Journal of Human Genetics, 2001
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