Associated Papers
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
Diagnosis of an intermediate case of maple syrup urine disease: A case report.
Lin YT et al.
World Journal of Clinical Cases, 2023
Identification of gene mutations in six Chinese patients with maple syrup urine disease.
Li L et al.
Frontiers in Genetics, 2023
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
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