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Biochemical study on β-glucosidase in individuals with Gaucher's disease and normal subjects
UploadMolecular characterization of phenylketonuria in South Brazil
Download from www.researchgate.netCFTR gene: Molecular analysis in patients from South Brazil
Download from www.researchgate.netMachado-Joseph disease in South Brazil: Clinical and molecular characterization of kindreds
Download from www.researchgate.netEffects of imilglucerase withdrawal on an adult with Gaucher disease.
Download from onlinelibrary.wiley.comAspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations
Download from www.researchgate.netArylsulfatase A pseudodeficiency in healthy Brazilian individuals
Download from dx.doi.orgA flow-sheet for the diagnosis of storage diseases
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