Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Sabrina, Malvagia"'
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
Autor:
Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy betwe
Externí odkaz:
https://doaj.org/article/693ce51ab3634e2681369cd0d228d859
Autor:
Giulia Forni, Sabrina Malvagia, Silvia Funghini, Emanuela Scolamiero, Massimo Mura, Maria Della Bona, Fabio Villanelli, Roberta Damiano, Giancarlo la Marca
Publikováno v:
Data in Brief, Vol 21, Iss , Pp 2398-2404 (2018)
This article provides supplementary data for the paper “LC–MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization” (Forni et al., 2018). Several parameters were tested to opti
Externí odkaz:
https://doaj.org/article/e0bc5abf6d79480e91f9836535360ccc
Autor:
Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100689- (2020)
The biotinidase (BTD) enzyme is essential for recycling biotin, a water-soluble B-complex vitamin that is the coenzyme of four carboxylases involved in fatty acid synthesis, amino acid catabolism and gluconeogenesis. If untreated, total or partial BT
Externí odkaz:
https://doaj.org/article/9da7de7a356e41d387315192937ba044
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 84 (2020)
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological
Externí odkaz:
https://doaj.org/article/2e1f087b58a34109b22fcdc03be7d503
Autor:
Sara Poggiali BSc, MT, Daniela Ombrone BSc, Giulia Forni BSc, Sabrina Malvagia BSc, Silvia Funghini BSc, PhD, Massimo Mura Pharm Sc, Elisabetta Pasquini MD, Laura Santoro BSc, Vincenzo Bellavia BSc, Orazia Maria Granata BSc, Cinzia Castana MD, Kathleen S. McGreevy PhD, Tommaso Silvano Aronica MD, Giancarlo la Marca Pharm Sc
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
The isodecyl neopentanoate is an ingredient used in the cosmetic industry to prepare a nipple fissure balm. We report on 12 newborns that showed elevated C5-acylcarnitine levels upon newborn screening following treatment with balm. The first 3 neonat
Externí odkaz:
https://doaj.org/article/fb13150cf4ed4cc785419f2a25b2917f
Autor:
Carlo Dionisi-Vici, Silvia Funghini, Sabrina Malvagia, Diego Martinelli, Giancarlo la Marca, Agata Fiumara, Renzo Guerrini, Bruno Casetta, Maria Alice Donati, Rita Barone
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 59:165-171
Objectives Congenital disorders of N-glycosylation (CDG) are a large group of rare metabolic disorders caused by defects in the most common post-translational modification of proteins. CDGs are often difficult to diagnose as they are manifested with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba8d28d565436a45006f713d037471e
https://doi.org/10.1515/cclm-2020-0650
https://doi.org/10.1515/cclm-2020-0650
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_________::cdd4e05e1c1f30127e41c1b887c86d70
https://doi.org/10.1007/978-3-030-67727-5_6
https://doi.org/10.1007/978-3-030-67727-5_6
Autor:
Valeria Calbi, Francesca Fumagalli, Elena Sophia Fratini, Andrea Palasciano, Salvatore Recupero, Vera Gallo, Fabiola De Mattia, Ambra Corti, Maria Della Bona, Sabrina Malvagia, Giulia Forni, Giancarlo La Marca, Alessandro Aiuti
Publikováno v:
Molecular Genetics and Metabolism. 138:107043
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ceac9574a6e64528a85b16ac40f1d32
https://doi.org/10.1016/j.ymgme.2022.107043
https://doi.org/10.1016/j.ymgme.2022.107043
Autor:
Fabio Villanelli, Sabrina Malvagia, Silvia Funghini, Roberta Damiano, Maria Luisa Della Bona, Emanuela Scolamiero, Massimo Mura, Giancarlo la Marca, Giulia Forni
Publikováno v:
Clinica Chimica Acta. 488:98-103
Mucopolysaccharidoses are a group of lysosomal storage disorders (LSDs) characterized by the accumulation of glycosaminoglycans (GAGs). Recently, LC-MS/MS has been widely applied in GAGs analysis combined with different sample preparations for cleavi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbe66beb529ce44233bb072d7192fff
https://doi.org/10.1016/j.cca.2018.11.001
https://doi.org/10.1016/j.cca.2018.11.001
Autor:
Daniela Ombrone, Silvia Funghini, Giancarlo la Marca, Massimo Mura, Chiara Azzari, Sabrina Malvagia, Maria Luisa Della Bona, Roberta Damiano, Martina Cortimiglia, Silvia Ricci
Publikováno v:
Clinical chemistry and laboratory medicineReferences. 59(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d210f1ee636ce51d91d88c631b631c
https://pubmed.ncbi.nlm.nih.gov/33951760
https://pubmed.ncbi.nlm.nih.gov/33951760