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Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats, Maria Andrea; Vetro, Annalisa; Limongelli, Ivan; Lunardi, Giada; Casarin, Alberto; Doimo, Mara; Spinazzi, Marco; Angelini, Corrado; Cenacchi, Giovanna; Burlina, Alberto; Rodriguez Hernandez, Maria Angeles; Chiandetti, Lino; Clementi, Maurizio; Trevisson, Eva; Navas, Placido; Zuffardi, Orsetta; Salviati, Leonardo.
Afiliação
  • Desbats MA; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
  • Vetro A; Biotechnology Research Laboratory, Foundation IRCCS, Policlinico San Matteo, Pavia, Italy.
  • Limongelli I; 1] Department of Industrial and Information Engineering, University of Pavia, Pavia, Italy [2] Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Lunardi G; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
  • Casarin A; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
  • Doimo M; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
  • Spinazzi M; Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Padova, Italy.
  • Angelini C; 1] Neuromuscular Laboratory, Department of Neurosciences, University of Padova, Padova, Italy [2] Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Camillo, Venice, Italy.
  • Cenacchi G; Department of Radiological and Histocytopathological Sciences, University of Bologna, Bologna, Italy.
  • Burlina A; Metabolic Disorders Unit, Azienda Ospedaliera di Padova, Padova, Italy.
  • Rodriguez Hernandez MA; Centro Andaluz de Biología del Desarrollo (CABD-CSIC), Universidad Pablo Olavide, and CIBERER, Instituto de Salud Carlos III, Carretera de Utrera Km. 1, Sevilla, Spain.
  • Chiandetti L; Neonatal Intensive Care Unit, Department of Woman and Child Health, University of Padova, Italy.
  • Clementi M; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
  • Trevisson E; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
  • Navas P; Centro Andaluz de Biología del Desarrollo (CABD-CSIC), Universidad Pablo Olavide, and CIBERER, Instituto de Salud Carlos III, Carretera de Utrera Km. 1, Sevilla, Spain.
  • Zuffardi O; 1] Department of Molecular Medicine, University of Pavia, Pavia, Italy [2] Mondino National Institute of Neurology Foundation, IRCCS, Pavia, Italy.
  • Salviati L; 1] Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy [2] IRP Città della Speranza, Padova, Italy.
Eur J Hum Genet ; 23(9): 1254-8, 2015 Sep.
Article em En | MEDLINE | ID: mdl-25564041
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Ubiquinona / Mutação Puntual / Debilidade Muscular / Alquil e Aril Transferases / Doenças Mitocondriais / Mitocôndrias Musculares Tipo de estudo: Prognostic_studies Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Ubiquinona / Mutação Puntual / Debilidade Muscular / Alquil e Aril Transferases / Doenças Mitocondriais / Mitocôndrias Musculares Tipo de estudo: Prognostic_studies Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido