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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants
Authors:M. Gigante  S. Diella  L. Santangelo  E. Trevisson  M.J. Acosta  M. Amatruda  G. Finzi  G. Caridi  L. Murer  M. Accetturo  E. Ranieri  G.M. Ghiggeri  M. Giordano  G. Grandaliano  L. Salviati  L. Gesualdo
Affiliation:1. Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy;2. Unit of Pediatric Nephrology, University Hospital “Policlinico Consorziale 3. – 4. Giovanni XXIII”, Bari, Italy;5. Clinical Genetics Unit, Department of Pediatrics, University of Padua and IRP “Città della Speranza”, Padua, Italy;6. Units of Nephrology and Pathology Anatomy, “Ospedale di Circolo e Fondazione Macchi”, Varese, Italy;7. Division of Nephrology, Laboratory on Pathophysiology of Uremia, G. Gaslini Institute, Genoa, Italy;8. Division of Nephrology, Dialysis and Transplantation, Department of Pediatrics, Azienda Ospedaliera–University of Padua, Padua, Italy;9. Nephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University “Aldo Moro”, Bari, Italy
Abstract:
Keywords:
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