Associated Papers
Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease.
Garrett R et al.
Molecular Genetics and Metabolism Reports, 2025
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Upadia J et al.
Molecular Genetics and Metabolism Reports, 2025
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA et al.
American Journal of Medical Genetics. Part A, 2020
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