Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Elisa Giocaliere"'
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:
Kevin Bishop, Axel Schambach, Giancarlo la Marca, Martha Kirby, Thorsten M. Schlaeger, MaryPat Jones, Fabio Candotti, Luigi D. Notarangelo, Yuval Itan, Waleed Al-Herz, Settara C. Chandrasekharappa, Kerstin Felgentreff, Kerry Dobbs, Raman Sood, Alex Devine, Elisa Giocaliere, Stephen Wincovitch, Jayashree Jagadeesh, Karen L. Simon, Alberto Rissone, Katja G. Weinacht
Publikováno v:
The Journal of Experimental Medicine
Journal of Experimental Medicine, vol. 212, no. 8, pp. 1185-1202
Journal of Experimental Medicine, vol. 212, no. 8, pp. 1185-1202
Rissone et al. demonstrate that adenylate kinase AK2, an enzyme mutated in reticular dysgenesis (RD) in humans, prevents oxidative stress during hematopoiesis. Using a zebrafish model, as well as induced pluripotent stem cells derived from an RD pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1845629b2c7b7aeb3e2bdca2ae83fc71
http://europepmc.org/articles/PMC4516804
http://europepmc.org/articles/PMC4516804
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:
M.L. Della Bona, Luca Filippi, Elisa Giocaliere, M. Dal Monte, Giacomo Cavallaro, Patrizio Fiorini, Fabio Mosca, Gianpaolo Donzelli, Sabrina Malvagia, G. la Marca, Paola Bagnoli
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 26:833-840
While propranolol pharmacokinetics has been extensively studied in adults, this study reports the first evaluation of propranolol pharmacokinetics in term and preterm neonates.Propranolol concentrations were measured in four term and 32 preterm newbo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ce5056034794968f076aaad166165f
https://doi.org/10.3109/14767058.2012.755169
https://doi.org/10.3109/14767058.2012.755169
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:
Gianluca Giorgi, Elisa Giocaliere, Angela Ruggirello, Leopoldo Ceraulo, Vincenzo Turco Liveri
Publikováno v:
Rapid Communications in Mass Spectrometry. 23:2206-2212
The formation and structural features of negatively charged aggregates of sodium bis(2-ethylhexyl)sulfosuccinate (AOTNa) surfactant molecules in the gas phase have been investigated by electrospray ionization mass spectrometry (ESI-MS) and density fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a598f99bd38e2316c6a0d0f7cce926d
https://doi.org/10.1002/rcm.4132
https://doi.org/10.1002/rcm.4132
Autor:
Elisa Giocaliere, Fabio Villanelli, Daniela Ombrone, Sabrina Malvagia, Giulia Forni, Anna Rosati, Engy Shokry, Renzo Guerrini, Giancarlo la Marca, Maria Luisa Della Bona, Silvia Funghini
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 440
Phenytoin (PHT) is one of the most commonly used anticonvulsant drugs for the treatment of epilepsy and bipolar disorders. The large amount of plasma required by conventional methods for drug quantification makes mass spectrometry combined with dried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::037a3a2a77331764c05c94f37241d52d
https://pubmed.ncbi.nlm.nih.gov/25447695
https://pubmed.ncbi.nlm.nih.gov/25447695
Publikováno v:
Mass spectrometry reviews. 35(1)
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=pmid________::a92ee4ad2887e060e189d769ecffb0cb
https://pubmed.ncbi.nlm.nih.gov/25952022
https://pubmed.ncbi.nlm.nih.gov/25952022
Autor:
Silvia Funghini, Fabio Villanelli, Elisa Giocaliere, Giancarlo la Marca, Daniela Ombrone, Giulia Forni, Sabrina Malvagia, Maria Luisa Della Bona, Alessio De Luca, Bruno Casetta, Renzo Guerrini
Publikováno v:
European journal of mass spectrometry (Chichester, England). 19(6)
In recent years, new treatments have become available to treat some lysosomal storage disorders (LSDs) and many studies suggest that there is a benefit with starting therapy early. Newborn screening should detect diseases early enough for prompt trea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8853d78a65056399624606b7b351e530
https://pubmed.ncbi.nlm.nih.gov/24378468
https://pubmed.ncbi.nlm.nih.gov/24378468
Autor:
Elisa Ronconi, Maria Lucia Angelotti, Alessandro Sisti, Giancarlo la Marca, Paola Romagnani, Fabio Villanelli, Marialuisa Della Bona, Elisa Giocaliere, Tobias B. Huber, Eliana Parente, Benedetta Mazzinghi, Nicola Wanner, Duccio Lombardi, Costanza Sagrinati, Lara Ballerini, Anna Julie Peired, Helen Liapis, Laura Lasagni, Elena Lazzeri
Publikováno v:
Journal of the American Society of Nephrology; Vol 24
In CKD, the risk of kidney failure and death depends on the severity of proteinuria, which correlates with the extent of podocyte loss and glomerular scarring. We investigated whether proteinuria contributes directly to progressive glomerulosclerosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a49a3ebc4e4962e1aaa1aa7befe666d
https://pubmed.ncbi.nlm.nih.gov/23999394
https://pubmed.ncbi.nlm.nih.gov/23999394