-
1دورية أكاديميةExpanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
المؤلفون: 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
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
مصطلحات موضوعية: aminoacidemias, fatty acid oxidation disorders, inborn errors of metabolism, newborn screening, organic acidemias, urea cycle defects, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Giulia Forni, Sabrina Malvagia, Silvia Funghini, Emanuela Scolamiero, Massimo Mura, Maria Della Bona, Fabio Villanelli, Roberta Damiano, Giancarlo la Marca
المصدر: Data in Brief, Vol 21, Iss , Pp 2398-2404 (2018)
مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390
وصف الملف: electronic resource
-
3دورية أكاديمية
المؤلفون: Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca
المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100689- (2020)
مصطلحات موضوعية: Biotinidase deficiency, BTD gene, Newborn screening, Biotinidase deficiency incidence, Multiple carboxylase deficiency, MCD, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Sabrina Malvagia, Giulia Forni, Daniela Ombrone, Giancarlo la Marca
المصدر: International Journal of Neonatal Screening, Vol 6, Iss 4, p 84 (2020)
مصطلحات موضوعية: newborn screening, second-tier test, false positives, tandem mass spectrometry, inborn error of metabolism, Pediatrics, RJ1-570
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: 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
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2326-4594
-
6دورية أكاديمية
المؤلفون: Serena Catarzi, Anna Caciotti, Janita Thusberg, Rodolfo Tonin, Sabrina Malvagia, Giancarlo la Marca, Elisabetta Pasquini, Catia Cavicchi, Lorenzo Ferri, Maria A. Donati, Federico Baronio, Renzo Guerrini, Sean D. Mooney, Amelia Morrone
المصدر: The Scientific World Journal, Vol 2013 (2013)
مصطلحات موضوعية: Technology, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1537-744X
-
7
المؤلفون: 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
المصدر: Molecular Genetics and Metabolism. 138:107043
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
-
8
المؤلفون: Silvia Funghini, Sabrina Malvagia, Giulia Polo, Giancarlo la Marca
المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cdd4e05e1c1f30127e41c1b887c86d70
https://doi.org/10.1007/978-3-030-67727-5_6 -
9
المؤلفون: Carlo Dionisi-Vici, Silvia Funghini, Sabrina Malvagia, Diego Martinelli, Giancarlo la Marca, Agata Fiumara, Renzo Guerrini, Bruno Casetta, Maria Alice Donati, Rita Barone
المصدر: Clinical Chemistry and Laboratory Medicine (CCLM). 59:165-171
مصطلحات موضوعية: 0301 basic medicine, Gene isoform, medicine.medical_specialty, Glycosylation, Clinical Biochemistry, N-glycosylation, Mass spectrometry, congenital disorders of N-glycosylation (CDG), transferrin isoforms, Gastroenterology, Mass Spectrometry, 03 medical and health sciences, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 0302 clinical medicine, N-linked glycosylation, Internal medicine, inborn error of metabolism, medicine, Humans, Protein Isoforms, liquid chromatography-mass spectrometry (LC-MS), Glycoproteins, chemistry.chemical_classification, spectral deconvolution, business.industry, Biochemistry (medical), Transferrin, General Medicine, Serum samples, medicine.disease, 030104 developmental biology, chemistry, Inborn error of metabolism, online trapping and clean-up, Large group, business, 030217 neurology & neurosurgery, Chromatography, Liquid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba8d28d565436a45006f713d037471e
https://doi.org/10.1515/cclm-2020-0650 -
10
المؤلفون: Fabio Villanelli, Sabrina Malvagia, Silvia Funghini, Roberta Damiano, Maria Luisa Della Bona, Emanuela Scolamiero, Massimo Mura, Giancarlo la Marca, Giulia Forni
المصدر: Clinica Chimica Acta. 488:98-103
مصطلحات موضوعية: Adult, 0301 basic medicine, Analyte, Adolescent, Formic acid, Calibration curve, Butanols, Clinical Biochemistry, Dermatan Sulfate, Biochemistry, Dermatan sulfate, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Tandem Mass Spectrometry, Humans, Child, Derivatization, Aged, Aged, 80 and over, Reproducibility, Chromatography, Butanolysis derivatization, Glycosaminoglycans, Heparan sulfate, LC-MS/MS, Mucopolysaccharidoses, Biochemistry (medical), Infant, Newborn, Infant, General Medicine, Middle Aged, 030104 developmental biology, chemistry, Child, Preschool, 030220 oncology & carcinogenesis, Analytical procedures, Heparitin Sulfate, Chromatography, Liquid