Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Grazia Molinaro"'
Autor:
Alice Maguolo, Giulia Rodella, Alice Dianin, Irene Monge, Martina Messina, Erika Rigotti, Francesca Pellegrini, Grazia Molinaro, Fiorenzo Lupi, Andrea Pasini, Natascia Campostrini, Florina Ion Popa, Francesca Teofoli, Monica Vincenzi, Marta Camilot, Giorgio Piacentini, Andrea Bordugo
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: Biotinidase deficiency (BD) is an autosomal recessive disease causing a defect in the biotin-releasing enzyme. Newborn screening (NBS) allows early diagnosis and treatment, ensuring excellent prognosis. The aim of this study was to desc
Externí odkaz:
https://doaj.org/article/63fdc4a8fd674a3bb3bd5dfb6b3ac3ed
Autor:
Marta Camilot, R. Nurti, Gaetano Cantalupo, Alice Maguolo, F. Lupi, Erika Rigotti, Giorgio Piacentini, Francesca Teofoli, Andrea Pasini, F. Ion Popa, Monica Vincenzi, Paola Tonin, Giulia Rodella, Grazia Molinaro, Leonardo Salviati, A. Dianin, F. Pellegrini, Natascia Campostrini, A. Bordugo, I. Monge, Sara Tucci
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100632-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Introduction Mitochondrial fatty acid oxidation disorders (FAODs) are a heterogeneous group of hereditary autosomal recessive diseases included in newborn screening (NBS) program in Italy. The aim of this study was to analyse FAODs cases, identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c463ae5eb845bc19b2592d9ea19797e
http://www.sciencedirect.com/science/article/pii/S2214426920300781
http://www.sciencedirect.com/science/article/pii/S2214426920300781
Autor:
Federico Mercolini, Ylenia Girtler, Grazia Molinaro, Andrea Bordugo, Paolo Biban, Daniele Donà, Konrad Anton Mussner
Publikováno v:
Journal of Paediatrics and Child Health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7aa1151a5fe3ef1e0db982a6875a5809
http://hdl.handle.net/11577/3365996
http://hdl.handle.net/11577/3365996
