International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
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| Title: | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. |
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| Authors: | Altassan R; Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.; Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Péanne R; Department of Human Genetics, KU Leuven, Leuven, Belgium.; LIA GLYCOLAB4CDG (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure', France/ Belgium., Jaeken J; Department of Human Genetics, KU Leuven, Leuven, Belgium., Barone R; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Bidet M; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France., Borgel D; INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France., Brasil S; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; 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., Cassiman D; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Cechova A; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Coman D; Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia., Corral J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain., Correia J; Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal., de la Morena-Barrio ME; Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain., de Lonlay P; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France., Dos Reis V; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia., Fiumara A; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Francisco R; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; 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.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal., Freeze H; Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California., Funke S; Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gert M; LIA GLYCOLAB4CDG (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure', France/ Belgium.; Center for Human Genetics, KU Leuven, Leuven, Belgium., Girad M; AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.; Hepatologie prdiatrique department, Paris Descartes University, Paris, France., Giros M; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Grünewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK., Hernández-Caselles T; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain., Honzik T; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Hutter M; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany., Krasnewich D; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Lee J; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia., Lefeber D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Marques-de-Silva 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.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal., Martinez AF; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain., Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Õunap K; Department of Pediatrics, University of Tartu, Tartu, Estonia.; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Pascoal C; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; 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., Pascreau T; AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France., Patterson M; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic Children's Center, Rochester, New York.; Division of Child and Adolescent Neurology, Department of Pediatrics, Mayo Clinic Children's Center, Rochester, New York.; Division of Child and Adolescent Neurology, Department of Medical Genetics, Mayo Clinic Children's Center, Rochester, New York., Quelhas D; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.; Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota., Sarkhail P; Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran., Schiff M; Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France., Seroczyńska M; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain., Serrano M; Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Seta N; AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland., Thiel C; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany., Tort F; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Videira P; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal., Witters P; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Zeevaert R; Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, New York.; Department of Pediatrics, Tulane University, New Orleans, Louisiana. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Jan; Vol. 42 (1), pp. 5-28. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Systematic Review |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1573-2665 |
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| DOI: | 10.1002/jimd.12024 |
