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Roberto Giugliani

Universidade Federal do Rio Grande do Sul

826

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15281

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Disruption of morphogenic and growth pathways in lysosomal storage diseases

2021
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Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial

2021 Molecular Genetics and Metabolism
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Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype

2021
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Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of gene variants and reporting of new variants

2021 Molecular Genetics and Metabolism
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Drug delivery across the blood-brain barrier and resultant reduction of heparan sulfate in the cerebrospinal fluid in the patients with Hunter syndrome (MPS II): An integrated analysis of 25-week Japanese and Brazilian data on pabinafusp alfa (JR-141)

2021 Molecular Genetics and Metabolism
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Exploration of the efficacy of pabinafusp-alfa (JR-141) on neurocognitive development in Hunter syndrome (MPS II): 52-week data from clinical trials in Japan and Brazil

2021 Molecular Genetics and Metabolism
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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

2021 Human Mutation
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Clinical trials for genetic diseases in Latin America.

2021 American Journal of Medical Genetics Part C-seminars in Medical Genetics
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Children treated with olipudase alfa for chronic acid sphingomyelinase deficiency show meaningful improvement on clinically relevant outcomes and an overall favorable safety profile: 1-year results of the ASCEND-Peds trial

2021 Molecular Genetics and Metabolism
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Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease

2021 Molecular Genetics and Metabolism
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