Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Autorzy:
Fecarotta S; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Romano A; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Della Casa R; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Del Giudice E; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Bruschini D; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Mansi G; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Bembi B; Regional Coordinator Centre for Rare Diseases, University Hospital 'Santa Maria della Misericordia', Udine, Italy. . Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital 'Santa Maria della Misericordia', Udine, Italy. . Fiumara A; Department of Pediatrics, Regional Referral Center for Inherited Metabolic Disease, University of Catania, Catania, Italy. . Di Rocco M; Department of Pediatrics, Unit of Rare Diseases, Gaslini Institute, Genoa, Italy. . UzielG; Unit of Child Neurology, The Foundation 'Carlo Besta' Neurological Institute (IRCCS), Milan, Italy. uziel@istituto-besta.it. Ardissone A; Unit of Child Neurology, The Foundation 'Carlo Besta' Neurological Institute (IRCCS), Milan, Italy. . Roccatello D; Center of Research on Immunopathology and Rare Diseases (CMID), San Giovanni Bosco Hospital and University of Turin, Turin, Italy. . Alpa M; Center of Research on Immunopathology and Rare Diseases (CMID), San Giovanni Bosco Hospital and University of Turin, Turin, Italy. . Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Dionisi-Vici C; Department of Pediatric Medicine, Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Deodato F; Department of Pediatric Medicine, Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Caviglia S; Department of Neurosciences, Psychology Clinic Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. . Federico A; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. . Palmeri S; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. . Gabrielli O; Department of Clinical Sciences, Polytechnic University of Marche, Ospedali Riuniti, Ancona, Italy. . Santoro L; Department of Clinical Sciences, Polytechnic University of Marche, Ospedali Riuniti, Ancona, Italy. . Filla A; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. . Russo C; Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy. . Parenti G; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. . Andria G; Department of Translational Medicine-Section of Pediatrics, Federico II University, Naples, Italy. .
O22 – 1585 New insights into the spectrum of phenotypes and genotypes in Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL).
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