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Mostrati risultati da 1 a 20 di 164
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results (Orphanet Journal of Rare Diseases, (2022), 17, 1, (437), 10.1186/s13023-022-02587-0) 2023 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force 2023 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
Towards Achieving Equity and Innovation in Newborn Screening across Europe 2022 Scarpa M. + INTERNATIONAL JOURNAL OF NEONATAL SCREENING - -
Newborn screening as a fully integrated system to stimulate equity in neonatal screening in Europe 2022 Scarpa M. + THE LANCET REGIONAL HEALTH. EUROPE - -
Erratum: One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (Genetics in Medicine (2021) 23(8) (1543–1550), (S1098360021050620), (10.1038/s41436-021-01156-3)) 2022 Scarpa M. + GENETICS IN MEDICINE - -
Rare disease education in Europe and beyond: time to act 2022 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS) 2022 Scarpa M. + JOURNAL OF CLINICAL MEDICINE - -
One year of COVID-19: infection rates and symptoms in patients with inherited metabolic diseases followed by MetabERN 2022 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results 2022 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results 2022 Scarpa M. + GENETICS IN MEDICINE - -
Improving clinical paediatric research and learning from COVID-19: recommendations by the Conect4Children expert advice group 2022 Scarpa M. + PEDIATRIC RESEARCH - -
WORLDSymposiumTM 2022⁎: 18th Annual Research Meeting, Scientific Sessions 2022 Scarpa M. + MOLECULAR GENETICS AND METABOLISM - -
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy 2022 Scarpa M. + FRONTIERS IN PHARMACOLOGY - -
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria 2021 Scarpa M. + JOURNAL OF INHERITED METABOLIC DISEASE - -
Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients 2021 Lourenco C. M.Scarpa M.Simonati A. + ORPHANET JOURNAL OF RARE DISEASES - -
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency 2021 Scarpa M. + GENETICS IN MEDICINE - -
An international classification of inherited metabolic disorders (ICIMD) 2021 Ali H.Scarpa M.Zeviani M. + JOURNAL OF INHERITED METABOLIC DISEASE - -
Plasma neurofilament light (NfL) in patients affected by niemann–pick type C disease (NPCD) 2021 Scarpa M. + JOURNAL OF CLINICAL MEDICINE - -
U-IMD: the first Unified European registry for inherited metabolic diseases 2021 Scarpa M. + ORPHANET JOURNAL OF RARE DISEASES - -
Acid sphingomyelinase deficiency: A clinical and immunological perspective 2021 Scarpa M. + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Mostrati risultati da 1 a 20 di 164
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