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Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.

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第一作者： Silvia,Kalantari

第一单位： Department of Medical Sciences, University of Turin, Turin, Italy.

作者： Silvia,Kalantari ^[1] ; Brigida,Brezzi ^[2] ; Valeria,Bracciamà ^[1] ; Antonella,Barreca ^[3] ; Paolo,Nozza ^[4] ; Tiziana,Vaisitti ^[1] ; Antonio,Amoroso ^[5] ; Silvia,Deaglio ^[5] ; Marco,Manganaro ^[2] ; Francesco,Porta ^[6] ; Marco,Spada ^[7]

作者单位： Department of Medical Sciences, University of Turin, Turin, Italy. ^[1] Nephrology and Dialysis Unit, Azienda Ospedaliera "SS. Antonio e Biagio e Cesare Arrigo", Alessandria, Italy. ^[2] Anatomia e Istologia Patologica, Città della Salute e della Scienza University Hospital, Turin, Italy. ^[3] S.C. Anatomia e Istologia Patologica, Azienda Ospedaliera "SS. Antonio e Biagio e Cesare Arrigo", Alessandria, Italy. ^[4] Department of Medical Sciences, University of Turin, Turin, Italy.;Immunogenetics and Biology of Transplantation, Città della Salute e della Scienza University Hospital, Turin, Italy. ^[5] Department of Pediatrics, Città della Salute e della Scienza University Hospital, University of Torino, Piazza Polonia 94, 10126, Turin, Italy. francesco.porta@unito.it. ^[6] Department of Pediatrics, Città della Salute e della Scienza University Hospital, University of Torino, Piazza Polonia 94, 10126, Turin, Italy. ^[7]

关键词 Adult-onset CblC Cobalamin C deficiency Homocysteine Methylmalonic aciduria and homocystinuria Neuropsychiatric presentation Renal function decline aHUS