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A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.
Monfrini, Edoardo; Pelucchi, Sara; Hollmén, Maija; Viitala, Miro; Mariani, Raffaella; Bertola, Francesca; Majore, Silvia; Di Fonzo, Alessio; Piperno, Alberto.
Affiliation
  • Monfrini E; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milano, Milano, Italy; Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Neurology Unit, Milano, Italy.
  • Pelucchi S; School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
  • Hollmén M; MediCity Research Laboratory and InFLAMES flagship, University of Turku, Turku, Finland.
  • Viitala M; MediCity Research Laboratory and InFLAMES flagship, University of Turku, Turku, Finland.
  • Mariani R; Centre for Rare Disease - Disorders of Iron Metabolism, Fondazione IRCCS, San Gerardo dei Tintori, European Reference Network - EuroBloodNet, Monza, Italy.
  • Bertola F; Cytogenetics and Medical Genetics, Fondazione IRCCS, San Gerardo dei Tintori, Monza, Italy.
  • Majore S; Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy.
  • Di Fonzo A; Foundation IRCCS Cà Granda Ospedale Maggiore Policlinico, Neurology Unit, Milano, Italy.
  • Piperno A; Centre for Rare Disease - Disorders of Iron Metabolism, Fondazione IRCCS, San Gerardo dei Tintori, European Reference Network - EuroBloodNet, Monza, Italy; Centro Ricerca Tettamanti, Monza, Italy. Electronic address: alberto.piperno@unimib.it.
Am J Hum Genet ; 110(8): 1436-1443, 2023 08 03.
Article in En | MEDLINE | ID: mdl-37490907
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Iron Overload / Hyperferritinemia Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Iron Overload / Hyperferritinemia Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2023 Type: Article Affiliation country: Italy