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

Relation: https://www.mdpi.com/2409-515X/8/3/47; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/693ce51ab3634e2681369cd0d228d859

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

Relation: http://www.sciencedirect.com/science/article/pii/S2352340918314938; https://doaj.org/toc/2352-3409

URL الوصول: https://doaj.org/article/e0bc5abf6d79480e91f9836535360ccc

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

Relation: http://www.sciencedirect.com/science/article/pii/S221442692030135X; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/9da7de7a356e41d387315192937ba044

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

URL الوصول: https://doaj.org/article/fb13150cf4ed4cc785419f2a25b2917f

المؤلفون: Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, Lorenzo Ferri, Francesco Ripandelli, Cinzia Costa, Paolo Calabresi, Paolo Prontera, Francesca Pochiero, Elisabetta Pasquini, Silvia Funghini, Giancarlo la Marca, Maria Alice Donati, Amelia Morrone

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 345 (2018)

مصطلحات موضوعية: N-acetylglutamate synthase deficiency (NAGSD), NAGS gene mutations, N-carbamylglutamate (NCG), urea cycle disorders (UCDs), late-onset UCDs, hyperammonemic encephalopathy, headaches, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/19/2/345; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/57640c4a4b964b1f8981ac05ed49c38e

المؤلفون: Nicola Brunetti-Pierri, Rita Ferla, Virginia Maria Ginocchio, Alessandro Rossi, Simona Fecarotta, Roberta Romano, Giancarlo Parenti, Yilmaz Yildiz, Stefano Zancan, Valentina Pecorella, Margherita Dell’Anno, Mafalda Graziano, Marialuisa Alliegro, Generoso Andria, Francesca Santamaria, Raffaella Brunetti-Pierri, Francesca Simonelli, Vincenzo Nigro, Maria Vargas, Giuseppe Servillo, Francesco Borgia, Ernesto Soscia, Marco Gargaro, Silvia Funghini, Novella Tedesco, Pierre Romain Le Brun, Charles A. Rupar, Chitra Prasad, Mar O’Callaghan, John J. Mitchell, Olivier Danos, Jean-Brice Marteau, Stefania Galimberti, Maria Grazia Valsecchi, Philippe Veron, Federico Mingozzi, Francesca Fallarino, Giancarlo la Marca, H. Serap Sivri, Alberto Auricchio

المصدر: NEJM Evidence. 1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::93d416c60dd7074db1fccb900afbb5ac
https://doi.org/10.1056/evidoa2200052

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

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

المؤلفون: Daniela Ombrone, Silvia Funghini, Giancarlo la Marca, Massimo Mura, Chiara Azzari, Sabrina Malvagia, Maria Luisa Della Bona, Roberta Damiano, Martina Cortimiglia, Silvia Ricci

المصدر: Clinical chemistry and laboratory medicineReferences. 59(10)

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Adenosine Deaminase, Biochemistry (medical), Clinical Biochemistry, Infant, Newborn, Receptors, Antigen, T-Cell, General Medicine, Neonatal Screening, Italy, medicine, Humans, Severe Combined Immunodeficiency, business, Inclusion (education)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d210f1ee636ce51d91d88c631b631c
https://pubmed.ncbi.nlm.nih.gov/33951760

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bbe66beb529ce44233bb072d7192fff
https://doi.org/10.1016/j.cca.2018.11.001