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Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada, Silvia; Parazzini, Cecilia; Bini, Paolo; Barbarini, Mario; Alberti, Luisella; Valente, Marialuisa; Chiapparini, Luisa; De Silvestri, Annalisa; Doneda, Chiara; Iascone, Maria; Saielli, Laura Assunta; Cereda, Cristina; Veggiotti, Pierangelo; Corbetta, Carlo; Tonduti, Davide.
Afiliação
  • Masnada S; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy. Electronic address: silvia.masnada@asst-fbf-sacco.it.
  • Parazzini C; Department of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy.
  • Bini P; Neonatal Intensive Care Unit, General Hospital "Azienda Ospedaliera Sant'Anna", Como, Italy.
  • Barbarini M; Neonatal Intensive Care Unit, General Hospital "Azienda Ospedaliera Sant'Anna", Como, Italy.
  • Alberti L; Newborn Screening Laboratory, V. Buzzi Children's Hospital, Milan, Italy.
  • Valente M; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
  • Chiapparini L; Neuroradiology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • De Silvestri A; Clinical Epidemiology and Biometry Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Doneda C; Department of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy.
  • Iascone M; Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Saielli LA; Newborn Screening Laboratory, V. Buzzi Children's Hospital, Milan, Italy.
  • Cereda C; Genomic and Post-Genomic Center, IRCCS Mondino Foundation, Pavia, Italy.
  • Veggiotti P; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy; Department of Biomedical and Clinical Sciences, L. Sacco, University of Milan, Italy.
  • Corbetta C; Newborn Screening Laboratory, V. Buzzi Children's Hospital, Milan, Italy.
  • Tonduti D; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy. Electronic address: davide.tonduti@asst-fbf-sacco.it.
Eur J Paediatr Neurol ; 28: 151-158, 2020 Sep.
Article em En | MEDLINE | ID: mdl-32800686
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Enoil-CoA Hidratase Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Enoil-CoA Hidratase Idioma: En Ano de publicação: 2020 Tipo de documento: Article