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Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.
Cavicchi, Catia; Chilleri, Chiara; Fioravanti, Antonella; Ferri, Lorenzo; Ripandelli, Francesco; Costa, Cinzia; Calabresi, Paolo; Prontera, Paolo; Pochiero, Francesca; Pasquini, Elisabetta; Funghini, Silvia; la Marca, Giancarlo; Donati, Maria Alice; Morrone, Amelia.
Afiliación
  • Cavicchi C; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. catia.cavicchi@meyer.it.
  • Chilleri C; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. chiara.chilleri@meyer.it.
  • Fioravanti A; Structural Biology Researcher Center, VIB, Vrije Universiteit Brussel, 1050 Brussels, Belgium. Antonella.Fioravanti@vub.be.
  • Ferri L; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. lorenzo.ferri@meyer.it.
  • Ripandelli F; Neurology Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. fra.ripandelli@gmail.com.
  • Costa C; Neurology Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. cinzia.costa@unipg.it.
  • Calabresi P; Neurology Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. paolo.calabresi@unipg.it.
  • Prontera P; Medical Genetics Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. pprontera@hotmail.com.
  • Pochiero F; Metabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. francesca.pochiero@meyer.it.
  • Pasquini E; Metabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. elisabetta.pasquini@meyer.it.
  • Funghini S; Newborn Screening, Biochemistry and Pharmacology Laboratory, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. silvia.funghini@meyer.it.
  • la Marca G; Newborn Screening, Biochemistry and Pharmacology Laboratory, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. g.lamarca@meyer.it.
  • Donati MA; Department of Experimental and Clinical Biomedical Sciences, University of Florence, 50139 Florence, Italy. g.lamarca@meyer.it.
  • Morrone A; Metabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. m.donati@meyer.it.
Int J Mol Sci ; 19(2)2018 Jan 24.
Article en En | MEDLINE | ID: mdl-29364180
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: Int J Mol Sci Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: Int J Mol Sci Año: 2018 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza