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Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience
Download from doi.orgMolecular basis of various forms of maple syrup urine disease in Chilean patients
Download from doi.orgFactors that increase risk for poor adherence to phenylketonuria treatment in Brazilian patients
UploadSARS‐CoV ‐2 pandemic in the Brazilian community of rare diseases: A patient reported survey
UploadThe fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
Download from doi.orgMaternity in the Brazilian CV Lattes: when will it become a reality?
Download from doi.orgMaple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
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