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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.
Gigante, M; Diella, S; Santangelo, L; Trevisson, E; Acosta, M J; Amatruda, M; Finzi, G; Caridi, G; Murer, L; Accetturo, M; Ranieri, E; Ghiggeri, G M; Giordano, M; Grandaliano, G; Salviati, L; Gesualdo, L.
Afiliação
  • Gigante M; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
  • Diella S; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
  • Santangelo L; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
  • Trevisson E; Unit of Pediatric Nephrology, University Hospital "Policlinico Consorziale - Giovanni XXIII", Bari, Italy.
  • Acosta MJ; Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP "Città della Speranza", Padua, Italy.
  • Amatruda M; Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP "Città della Speranza", Padua, Italy.
  • Finzi G; Units of Nephrology and Pathology Anatomy, "Ospedale di Circolo e Fondazione Macchi", Varese, Italy.
  • Caridi G; Units of Nephrology and Pathology Anatomy, "Ospedale di Circolo e Fondazione Macchi", Varese, Italy.
  • Murer L; Division of Nephrology, Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy.
  • Accetturo M; Division of Nephrology, Dialysis and Transplantation, Department of Pediatrics, Azienda Ospedaliera-University of Padua, Padua, Italy.
  • Ranieri E; Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University "Aldo Moro", Bari, Italy.
  • Ghiggeri GM; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
  • Giordano M; Division of Nephrology, Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy.
  • Grandaliano G; Unit of Pediatric Nephrology, University Hospital "Policlinico Consorziale - Giovanni XXIII", Bari, Italy.
  • Salviati L; Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
  • Gesualdo L; Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP "Città della Speranza", Padua, Italy.
Clin Genet ; 92(2): 224-226, 2017 08.
Article em En | MEDLINE | ID: mdl-28044327
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Ubiquinona / Debilidade Muscular / Doenças Mitocondriais / Mutação / Síndrome Nefrótica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Ubiquinona / Debilidade Muscular / Doenças Mitocondriais / Mutação / Síndrome Nefrótica Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article