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A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).
Casetta, Bruno; Malvagia, Sabrina; Funghini, Silvia; Martinelli, Diego; Dionisi-Vici, Carlo; Barone, Rita; Fiumara, Agata; Donati, Maria Alice; Guerrini, Renzo; la Marca, Giancarlo.
  • Casetta B; Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.
  • Malvagia S; Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.
  • Funghini S; Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.
  • Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Dionisi-Vici C; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Barone R; Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Fiumara A; Department of Pediatrics, Regional Referral Center for Inherited Metabolic Disease, University of Catania, Catania, Italy.
  • Donati MA; Metabolic and Neuromuscular Unit, Meyer Children's University Hospital, Florence, Italy.
  • Guerrini R; Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's University Hospital, Florence, Italy.
  • la Marca G; Neuroscience Department, Meyer Children's Hospital, University of Florence, Florence, Italy.
Clin Chem Lab Med ; 59(1): 165-171, 2020 08 10.
Article en En | MEDLINE | ID: mdl-32776892
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espectrometría de Masas / Transferrina / Glicoproteínas / Cromatografía Liquida / Trastornos Congénitos de Glicosilación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espectrometría de Masas / Transferrina / Glicoproteínas / Cromatografía Liquida / Trastornos Congénitos de Glicosilación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Año: 2020 Tipo del documento: Article