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Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.

作者信息

Torcoletti Marta, Petaccia Antonella, Pinto Rita Maria, Hladnik Uros, Locatelli Franco, Agostoni Carlo, Corona Fabrizia

机构信息

Clinica Pediatrica De Marchi, UOS Reumatologia Pediatrica, U.O. Pediatria 2, Fondazione IRCCS Cà Granda, Milano, Department of Pediatric Hematology-Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Bambino Gesù Children's Hospital, Rome, Mauro Baschirotto Institute for Rare Diseases, Genetics Unit, Costozza di Longare, Vicenza and Pediatrics Department, University of Pavia, Pavia, Italy.

Clinica Pediatrica De Marchi, UOS Reumatologia Pediatrica, U.O. Pediatria 2, Fondazione IRCCS Cà Granda, Milano, Department of Pediatric Hematology-Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Bambino Gesù Children's Hospital, Rome, Mauro Baschirotto Institute for Rare Diseases, Genetics Unit, Costozza di Longare, Vicenza and Pediatrics Department, University of Pavia, Pavia, Italy.Clinica Pediatrica De Marchi, UOS Reumatologia Pediatrica, U.O. Pediatria 2, Fondazione IRCCS Cà Granda, Milano, Department of Pediatric Hematology-Oncology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Bambino Gesù Children's Hospital, Rome, Mauro Baschirotto Institute for Rare Diseases, Genetics Unit, Costozza di Longare, Vicenza and Pediatrics Department, University of Pavia, Pavia, Italy.

出版信息

Rheumatology (Oxford). 2014 Aug;53(8):1533-4. doi: 10.1093/rheumatology/keu010. Epub 2014 Mar 10.

DOI:10.1093/rheumatology/keu010
PMID:24614645
Abstract
摘要

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