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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini, Rossella; De Lorenzo, Paola; Dardis, Andrea; Burlina, Alberto; Cassio, Alessandra; Cavarzere, Paolo; Concolino, Daniela; Della Casa, Roberto; Deodato, Federica; Donati, Maria Alice; Fiumara, Agata; Gasperini, Serena; Menni, Francesca; Pagliardini, Veronica; Sacchini, Michele; Spada, Marco; Taurisano, Roberta; Valsecchi, Maria Grazia; Di Rocco, Maja; Bembi, Bruno.
Afiliação
  • Parini R; Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, 20900, Monza, Italy. rossella.parini@unimib.it.
  • De Lorenzo P; Centre of Biostatistics for Clinical Epidemiology, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
  • Dardis A; Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
  • Burlina A; Department for Women and Children's Health, U.O.C. Inborn Metabolic Diseases, University Hospital, Padova, Italy.
  • Cassio A; Department of Pediatrics, University of Bologna, Bologna, Italy.
  • Cavarzere P; Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
  • Concolino D; Department of Pediatrics, University Magna Graecia, Catanzaro, Italy.
  • Della Casa R; Department of Translational Sciences, Pediatrics, University Federico II, Naples, Italy.
  • Deodato F; Division of Metabolism Bambino Gesù Children's Hospital, Rome, Italy.
  • Donati MA; Department of Pediatrics, Meyer Children's Hospital, Metabolic and Muscular Unit, University of Firenze, Florence, Italy.
  • Fiumara A; Department of Clinical and Experimental Medicine, Metabolic Diseases, Pediatric Clinic, University of Catania, Catania, Italy.
  • Gasperini S; Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, 20900, Monza, Italy.
  • Menni F; Department of Pathophysiology and Transplantation, Pediatric Highly Intensive Care Unit, University of Milano, IRCCS Ca' Granda Ospedale Maggiore Policlinico Foundation, Milan, Italy.
  • Pagliardini V; Department of Pediatrics, University of Torino, Torino, Italy.
  • Sacchini M; Department of Pediatrics, Meyer Children's Hospital, Metabolic and Muscular Unit, University of Firenze, Florence, Italy.
  • Spada M; Department of Pediatrics, University of Torino, Torino, Italy.
  • Taurisano R; Division of Metabolism Bambino Gesù Children's Hospital, Rome, Italy.
  • Valsecchi MG; Centre of Biostatistics for Clinical Epidemiology, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
  • Di Rocco M; Rare Diseases Unit, Pediatric Hospital Istituto Giannina Gaslini, Genoa, Italy.
  • Bembi B; Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
Orphanet J Rare Dis ; 13(1): 32, 2018 02 08.
Article em En | MEDLINE | ID: mdl-29422078
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Alfa-Glucosidases Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II / Alfa-Glucosidases Idioma: En Ano de publicação: 2018 Tipo de documento: Article