Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Daniela Ombrone"'
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:
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
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 84, p 84 (2020)
International Journal of Neonatal Screening
International Journal of Neonatal Screening
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1f6004fc7d4a9f2242af1f65d26c35c
https://www.mdpi.com/2409-515X/6/4/84
https://www.mdpi.com/2409-515X/6/4/84
Publikováno v:
Mass Spectrometry Reviews. 35:71-84
Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to importan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::daf8cafe9ca41ca92a3045ebb82acb64
https://doi.org/10.1002/mas.21463
https://doi.org/10.1002/mas.21463
Autor:
Fabio Villanelli, Renzo Guerrini, Bobby Gaspar, Ines Santisteban, Maria Moriondo, Claudia Valleriani, Elisa Giocaliere, Francesca Lippi, Michael S. Hershfield, Clementina Canessa, Sabrina Malvagia, Francesca Romano, Lynette Fairbanks, Silvia Funghini, Leila Bianchi, Stuart Adams, Giovanni Ragusa, Maurizio de Martino, Daniela Ombrone, Chiara Azzari, Massimo Resti, Marzia Duse, Carsten Speckmann, Maria Luisa Della Bona, Giancarlo la Marca
Publikováno v:
Journal of Allergy and Clinical Immunology. 131:1604-1610
Adenosine deaminase (ADA)-severe combined immunodeficiency (SCID) is caused by genetic variants that disrupt the function of ADA. In its early-onset form, it is rapidly fatal to infants. Delayed or late-onset ADA-SCID is characterized by insidious pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02a4c3e1ea666d65bc3c86ab183b85f1
https://doi.org/10.1016/j.jaci.2012.08.054
https://doi.org/10.1016/j.jaci.2012.08.054
Autor:
Francesca Pochiero, Elena Procopio, Michele Sacchini, Amelia Morrone, Maria Alice Donati, Serena Catarzi, Elisabetta Pasquini, G. LaMarca, Daniela Ombrone
Publikováno v:
Journal of neuromuscular diseases. 2(s1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a2aafdb6f94ce0161d9540b7d0bfb7
https://pubmed.ncbi.nlm.nih.gov/27858645
https://pubmed.ncbi.nlm.nih.gov/27858645
Autor:
Elisa Giocaliere, Francesca Romano, Chiara Azzari, Massimo Resti, Renzo Guerrini, Daniela Ombrone, Giulia Forni, Silvia Ricci, Fabio Villanelli, Sabrina Malvagia, Maria Luisa Della Bona, Giancarlo la Marca, Clementina Canessa, Silvia Funghini
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 54
Background Purine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b69904de8051830537c95e1c262bcc9
https://doi.org/10.1515/cclm-2015-0436
https://doi.org/10.1515/cclm-2015-0436
Autor:
Maria Grazia di Girolamo, Antonella Norma, Massimo Siano, Carla Cozzolino, Roberta Romanelli, Giovanna Gallo, Antonella Ansalone, Cristina Di Stefano, Graziella Corbo, Basilio Malamisura, Generoso Andria, Laura Ingenito, Giovanni Franzese, Giulia Frisso, Paolo Giliberti, Teodoro Stoduto, Silvana Pellecchia, Guglielmo R. D. Villani, Giancarlo Parenti, Francesco Salvatore, Ippolito Pierucci, Ignazio Franzese, Lucia Albano, Giovanni Ippolito, Marianna Caterino, Emanuela Scolamiero, Pietro Mazzeo, Margherita Ruoppolo, Daniela Ombrone, Adriano Durante, Anna Rossi, R. Pecce
Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in accumulation of abnormal metabolites proximal to the metabolic block, lack of essential products or accumulation of by-prod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d4eb6b01f0f1f639f86ef93231165f
http://hdl.handle.net/11588/599587
http://hdl.handle.net/11588/599587
Autor:
Giancarlo la Marca, Giulia Forni, Anna Rosati, Engy Shokry, Maria Luisa Della Bona, Silvia Funghini, Fabio Villanelli, Daniela Ombrone, Sabrina Malvagia, Renzo Guerrini
Publikováno v:
Journal of pharmaceutical and biomedical analysis. 109
Carbamazepine (CBZ) is a first-line drug for the treatment of different forms of epilepsy and the first choice drug for trigeminal neuralgia. CBZ is metabolized in the liver by oxidation into carbamazepine-10,11-epoxide (CBZE), its major metabolite w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8290fed11c0e9b064e9cf6efa080ad4a
https://pubmed.ncbi.nlm.nih.gov/25770414
https://pubmed.ncbi.nlm.nih.gov/25770414