Associated Papers
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
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB et al.
Orphanet Journal of Rare Diseases, 2020
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