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Molecular basis of various forms of maple syrup urine disease in Chilean patients
Download from doi.orgThe fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
Download from doi.orgMaple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
Download from doi.orgGlycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients
Download from doi.orgHumoral immune response in adult Brazilian patients with Mucolipidosis III gamma
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