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Search on : GIUGLIANI, ROBERTO [Author]
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 Pinto, Félix et al. Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique. J. inborn errors metab. screen., 2021, vol.9. ISSN 2326-4594
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 Nunes, Andrea et al. A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2). J. inborn errors metab. screen., 2020, vol.8. ISSN 2326-4594
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 Sebastião, Fernanda Medeiros et al. Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods. J. inborn errors metab. screen., 2020, vol.8. ISSN 2326-4594
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 Escolar, Maria et al. Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. J. inborn errors metab. screen., 2020, vol.8. ISSN 2326-4594
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 Baldini, Giulianna et al. Sanfilippo Syndrome: The Tale of a Challenging Diagnosis. J. inborn errors metab. screen., 2020, vol.8. ISSN 2326-4594
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 Giugliani, Roberto et al. Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America. J. inborn errors metab. screen., 2019, vol.7. ISSN 2326-4594
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 Baldo, Guilherme et al. Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome. J. inborn errors metab. screen., 2015, vol.3. ISSN 2326-4594
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 Guarany, Nicole Ruas et al. Mucopolysaccharidosis: Caregiver Quality of Life. J. inborn errors metab. screen., 2015, vol.3. ISSN 2326-4594
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 Giugliani, Roberto et al. A 15-Year Perspective of the Fabry Outcome Survey. J. inborn errors metab. screen., 2016, vol.4. ISSN 2326-4594
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 Ribas, Graziela Schmitt et al. Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots. J. inborn errors metab. screen., 2017, vol.5. ISSN 2326-4594
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