Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Cinzia Maria Bellettato"'
Autor:
Laura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, Karolina M. Stepien, Maurizio Scarpa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background Since the beginning of the COVID-19 pandemic, MetabERN has been monitoring the SARS-CoV-2 infection rates within its metabolic community. To gather data on the total number of cases and the severity of symptoms among IMD patients
Externí odkaz:
https://doaj.org/article/fa4e1b5632604461b8dcd6c8e7945d51
Autor:
Sylvia Sestini, Laura Paneghetti, Christina Lampe, Gianni Betti, Simon Bond, Cinzia Maria Bellettato, Scarpa Maurizio
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)
Abstract Background Many surveys have been performed over the years to assess the medical and social requirements of patients with a rare disease, but no studies have focused specifically on patients in Europe or with an inherited metabolic disease (
Externí odkaz:
https://doaj.org/article/87dd416488a848d294cab1aaeee77ff6
Autor:
Jean-Michel Heard, Charlotte Vrinten, Michael Schlander, Cinzia Maria Bellettato, Corine van Lingen, Maurizio Scarpa, the MetabERN collaboration group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Abstract Background The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged co
Externí odkaz:
https://doaj.org/article/fe2522ccef20464fac0b85dcbce34380
Autor:
Alberto Papi, Cinzia Maria Bellettato, Fausto Braccioni, Micaela Romagnoli, Paolo Casolari, Gaetano Caramori, Leonardo M Fabbri, Sebastian L Johnston
Publikováno v:
Revista Portuguesa de Pneumologia, Vol 13, Iss 1, Pp 143-145 (2007)
Externí odkaz:
https://doaj.org/article/5a81e90963a444ffafcac0d977583294
Autor:
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M. Mar O’Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I. Dali, Francesca D’Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-1 (2016)
Externí odkaz:
https://doaj.org/article/cc46ff4f646f442f80eb8b367524959e
Publikováno v:
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07410246ed97b7c03dd23d7d62bfa69e
https://doi.org/10.1007/978-3-030-67727-5_61
https://doi.org/10.1007/978-3-030-67727-5_61
Publikováno v:
Pediatric Clinics of North America. 65:353-373
Peroxisomes and lysosomes are distinct subcellular compartments that underlie several pediatric metabolic disorders. Knowledge of their function and cell biology leads to understanding how the disorders result from genetic defects. Diagnostic and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9df772d1bce45c607bf3cbdf7fe24ee
https://doi.org/10.1016/j.pcl.2017.11.011
https://doi.org/10.1016/j.pcl.2017.11.011
Publikováno v:
Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 127-133 (2018)
Italian Journal of Pediatrics, Vol 44, Iss S2, Pp 127-133 (2018)
The mucopolysaccharidoses (MPS) are a heterogeneous group of in-born metabolic conditions caused by genetic defects that result in the absence or severe deficiency of one of the lysosomal hydrolases responsible for the degradation of glycosaminoglyca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3f46ea8e0bb24720ca39d95131dce61
https://pubmed.ncbi.nlm.nih.gov/30442184
https://pubmed.ncbi.nlm.nih.gov/30442184
Publikováno v:
Best Practice & Research Clinical Endocrinology & Metabolism. 29:159-171
Pharmacological research has always focused on developing new therapeutic strategies capable of modifying a disease's natural history and improving patients' quality of life. Despite recent advances within the fields of medicine and biology, some dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e6883da804f406e2c0f49aa358787b1
https://doi.org/10.1016/j.beem.2014.12.001
https://doi.org/10.1016/j.beem.2014.12.001
Autor:
Francesca D’Avanzo, Ksenija Fumić, Lamis Ragab, Ljerka Cvitanovic-Sojat, Elisenda Cortès-Saladelafont, Hugo Devlieger, Christina Lampe, Maurizio Scarpa, Cinzia Maria Bellettato, Ángels Garcia Cazorla, Linda Cassis, Fedele Bonifazi, Viviana Giannuzzi, Viveca Odlind, Lucia Margari, Franco Bartoloni, Adriana Ceci, Ivo Barić, Christine í Dali
Publikováno v:
European Journal of Pediatrics
The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59f47c295270e4eb4786ab77134d2022
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-320839
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-320839