title: Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.
authors.affiliation: 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. martatorcoletti@hotmail.it.
authors.forename: Marta
authors.initials: M
authors.lastname: Torcoletti
authors.affiliation: 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.
authors.forename: Antonella
authors.initials: A
authors.lastname: Petaccia
authors.affiliation: 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.
authors.forename: Rita Maria
authors.initials: RM
authors.lastname: Pinto
authors.affiliation: 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.
authors.forename: Uros
authors.initials: U
authors.lastname: Hladnik
authors.affiliation: 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.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: 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.
authors.forename: Carlo
authors.initials: C
authors.lastname: Agostoni
authors.affiliation: 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.
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Corona
mesh_terms: D055573:Acid Ceramidase / Q000235:genetics; D001171:Arthritis, Juvenile / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D055577:Farber Lipogranulomatosis / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016896:Treatment Outcome
chemical_list: C526693:ASAH1 protein, human; D055573:Acid Ceramidase