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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; de la Morena-Barrio, María Eugenia; de Lonlay, Pascale; Dos Reis, Vanessa; Ferreira, Carlos R; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Funke, Simone; Gardeitchik, Thatjana; Gert, Matthijs; Girad, Muriel; Giros, Marisa; Grünewald, Stephanie; Hernández-Caselles, Trinidad; Honzik, Tomas; Hutter, Marlen; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-de-Silva, Dorinda; Martinez, Antonio F; Moravej, Hossein; Õunap, Katrin; Pascoal, Carlota; Pascreau, Tiffany; Patterson, Marc; Quelhas, Dulce; Raymond, Kimiyo; Sarkhail, Peymaneh; Schiff, Manuel; Seroczynska, Malgorzata; Serrano, Mercedes; Seta, Nathalie; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Federic; Vals, Mari-Anne.
Afiliación
  • Altassan R; Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.
  • Péanne R; Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Jaeken J; Department of Human Genetics, KU Leuven, Leuven, Belgium.
  • Barone R; LIA GLYCOLAB4CDG (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure", France/ Belgium.
  • Bidet M; Department of Human Genetics, KU Leuven, Leuven, Belgium.
  • Borgel D; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Brasil S; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France.
  • Cassiman D; INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France.
  • Cechova A; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Coman D; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Corral J; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.
  • Correia J; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • de la Morena-Barrio ME; Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
  • de Lonlay P; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia.
  • Dos Reis V; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
  • Ferreira CR; Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal.
  • Fiumara A; Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.
  • Francisco R; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.
  • Freeze H; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Funke S; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Gardeitchik T; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
  • Gert M; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
  • Girad M; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Giros M; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Grünewald S; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.
  • Hernández-Caselles T; Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.
  • Honzik T; Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary.
  • Hutter M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Krasnewich D; LIA GLYCOLAB4CDG (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure", France/ Belgium.
  • Lam C; Center for Human Genetics, KU Leuven, Leuven, Belgium.
  • Lee J; AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.
  • Lefeber D; Hepatologie prdiatrique department, Paris Descartes University, Paris, France.
  • Marques-de-Silva D; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
  • Martinez AF; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.
  • Moravej H; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.
  • Õunap K; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Pascoal C; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.
  • Pascreau T; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
  • Patterson M; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.
  • Quelhas D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.
  • Raymond K; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
  • Sarkhail P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schiff M; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Seroczynska M; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.
  • Serrano M; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Seta N; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Sykut-Cegielska J; Department of Pediatrics, University of Tartu, Tartu, Estonia.
  • Thiel C; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
  • Tort F; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
  • Vals MA; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.
J Inherit Metab Dis ; 42(1): 5-28, 2019 01.
Article en En | MEDLINE | ID: mdl-30740725
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fosfotransferasas (Fosfomutasas) / Trastornos Congénitos de Glicosilación Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Systematic_reviews Idioma: En Revista: J Inherit Metab Dis Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fosfotransferasas (Fosfomutasas) / Trastornos Congénitos de Glicosilación Tipo de estudio: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Systematic_reviews Idioma: En Revista: J Inherit Metab Dis Año: 2019 Tipo del documento: Article