International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Correction(s) for this article
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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
- Volume 42Issue 3Journal of Inherited Metabolic Disease
- pages: 577-577
- First Published online: April 25, 2019
Ruqaiah Altassan
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
Search for more papers by this authorRomain Péanne
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
Search for more papers by this authorJaak Jaeken
Department of Human Genetics, KU Leuven, Leuven, Belgium
Search for more papers by this authorRita Barone
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Search for more papers by this authorMuad Bidet
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France
Search for more papers by this authorDelphine Borgel
INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France
Search for more papers by this authorSandra Brasil
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
Search for more papers by this authorDavid Cassiman
Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium
Search for more papers by this authorAnna Cechova
Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
Search for more papers by this authorDavid Coman
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
Search for more papers by this authorJavier Corral
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Search for more papers by this authorJoana Correia
Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal
Search for more papers by this authorMaría Eugenia de la Morena-Barrio
Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Search for more papers by this authorPascale de Lonlay
Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France
Search for more papers by this authorVanessa Dos Reis
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal
Search for more papers by this authorCarlos R Ferreira
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
Search for more papers by this authorAgata Fiumara
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Search for more papers by this authorRita Francisco
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
Search for more papers by this authorHudson Freeze
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California
Search for more papers by this authorSimone Funke
Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary
Search for more papers by this authorThatjana Gardeitchik
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Search for more papers by this authorMatthijs Gert
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
Search for more papers by this authorMuriel Girad
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
Search for more papers by this authorMarisa Giros
Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain
Search for more papers by this authorStephanie Grünewald
Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK
Search for more papers by this authorTrinidad Hernández-Caselles
Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain
Search for more papers by this authorTomas Honzik
Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
Search for more papers by this authorMarlen Hutter
Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany
Search for more papers by this authorDonna Krasnewich
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Search for more papers by this authorChristina Lam
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
Search for more papers by this authorJoy Lee
Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia
Search for more papers by this authorDirk Lefeber
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Search for more papers by this authorDorinda Marques-da-Silva
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
Search for more papers by this authorAntonio F Martinez-Monseny
Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain
Search for more papers by this authorHossein Moravej
Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Search for more papers by this authorKatrin Õunap
Department of Pediatrics, University of Tartu, Tartu, Estonia
Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
Search for more papers by this authorCarlota Pascoal
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
Search for more papers by this authorTiffany Pascreau
AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France
Search for more papers by this authorMarc Patterson
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
Search for more papers by this authorDulce Quelhas
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
Search for more papers by this authorKimiyo Raymond
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota
Search for more papers by this authorPeymaneh Sarkhail
Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran
Search for more papers by this authorManuel Schiff
Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France
Search for more papers by this authorMałgorzata Seroczyńska
Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain
Search for more papers by this authorMercedes Serrano
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
Search for more papers by this authorNathalie Seta
AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France
Search for more papers by this authorJolanta Sykut-Cegielska
Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland
Search for more papers by this authorChristian Thiel
Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany
Search for more papers by this authorFederic Tort
Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain
Search for more papers by this authorMari-Anne Vals
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
Search for more papers by this authorPaula Videira
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal
Search for more papers by this authorPeter Witters
Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium
Department of Development and Regeneration, KU Leuven, Leuven, Belgium
Search for more papers by this authorRenate Zeevaert
Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium
Search for more papers by this authorCorresponding Author
Eva Morava
Department of Clinical Genomics, Mayo Clinic, Rochester, New York
Department of Pediatrics, Tulane University, New Orleans, Louisiana
Correspondence
Eva Morava, Department of Clinical Genomics, Mayo Clinic, 200 First street SW, 55905, Rochester, NY.
Email: [email protected]
Search for more papers by this authorRuqaiah Altassan
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
Search for more papers by this authorRomain Péanne
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
Search for more papers by this authorJaak Jaeken
Department of Human Genetics, KU Leuven, Leuven, Belgium
Search for more papers by this authorRita Barone
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Search for more papers by this authorMuad Bidet
Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France
Search for more papers by this authorDelphine Borgel
INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France
Search for more papers by this authorSandra Brasil
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
Search for more papers by this authorDavid Cassiman
Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium
Search for more papers by this authorAnna Cechova
Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
Search for more papers by this authorDavid Coman
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
Search for more papers by this authorJavier Corral
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Search for more papers by this authorJoana Correia
Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal
Search for more papers by this authorMaría Eugenia de la Morena-Barrio
Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Search for more papers by this authorPascale de Lonlay
Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France
Search for more papers by this authorVanessa Dos Reis
Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal
Search for more papers by this authorCarlos R Ferreira
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
Search for more papers by this authorAgata Fiumara
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
Search for more papers by this authorRita Francisco
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
Search for more papers by this authorHudson Freeze
Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California
Search for more papers by this authorSimone Funke
Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary
Search for more papers by this authorThatjana Gardeitchik
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Search for more papers by this authorMatthijs Gert
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
Search for more papers by this authorMuriel Girad
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
Search for more papers by this authorMarisa Giros
Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain
Search for more papers by this authorStephanie Grünewald
Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK
Search for more papers by this authorTrinidad Hernández-Caselles
Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain
Search for more papers by this authorTomas Honzik
Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
Search for more papers by this authorMarlen Hutter
Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany
Search for more papers by this authorDonna Krasnewich
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Search for more papers by this authorChristina Lam
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
Search for more papers by this authorJoy Lee
Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia
Search for more papers by this authorDirk Lefeber
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands
Search for more papers by this authorDorinda Marques-da-Silva
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
Search for more papers by this authorAntonio F Martinez-Monseny
Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain
Search for more papers by this authorHossein Moravej
Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
Search for more papers by this authorKatrin Õunap
Department of Pediatrics, University of Tartu, Tartu, Estonia
Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia
Search for more papers by this authorCarlota Pascoal
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
Search for more papers by this authorTiffany Pascreau
AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France
Search for more papers by this authorMarc Patterson
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
Search for more papers by this authorDulce Quelhas
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
Search for more papers by this authorKimiyo Raymond
Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota
Search for more papers by this authorPeymaneh Sarkhail
Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran
Search for more papers by this authorManuel Schiff
Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France
Search for more papers by this authorMałgorzata Seroczyńska
Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain
Search for more papers by this authorMercedes Serrano
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
Search for more papers by this authorNathalie Seta
AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France
Search for more papers by this authorJolanta Sykut-Cegielska
Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland
Search for more papers by this authorChristian Thiel
Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany
Search for more papers by this authorFederic Tort
Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain
Search for more papers by this authorMari-Anne Vals
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
Search for more papers by this authorPaula Videira
UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal
Search for more papers by this authorPeter Witters
Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium
Department of Development and Regeneration, KU Leuven, Leuven, Belgium
Search for more papers by this authorRenate Zeevaert
Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium
Search for more papers by this authorCorresponding Author
Eva Morava
Department of Clinical Genomics, Mayo Clinic, Rochester, New York
Department of Pediatrics, Tulane University, New Orleans, Louisiana
Correspondence
Eva Morava, Department of Clinical Genomics, Mayo Clinic, 200 First street SW, 55905, Rochester, NY.
Email: [email protected]
Search for more papers by this authorAbstract
Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach. In this article, a systematic review of the literature on PMM2-CDG was conducted by a group of international experts in different aspects of CDG. Our managment guidelines were initiated based on the available evidence-based data and experts' opinions. This guideline mainly addresses the clinical evaluation of each system/organ involved in PMM2-CDG, and the recommended management approach. It is the first systematic review of current practices in PMM2-CDG and the first guidelines aiming at establishing a practical approach to the recognition, diagnosis and management of PMM2-CDG patients.
CONFLICTS OF INTEREST
Honzik Tomas and Cechova Anna were supported by General University Hospital in Prague, Czech Republic (RVO-VFN 64165), and the Ministry of Health of the Czech Republic (MZ CR AZV 16-31932A). All other authors have no conflicts of interest to declare.
Supporting Information
| Filename | Description |
|---|---|
| jimd12024-sup-0001-TableS1.docxWord 2007 document , 163.8 KB | Table S1 SIGN grading system (reference: http://www.sign.ac.uk) |
| jimd12024-sup-0002-TableS2.docxWord 2007 document , 13.9 KB | Table S2 list of the major reported features in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) |
| jimd12024-sup-0003-TableS3.docxWord 2007 document , 27.8 KB | Table S3 frequency of reported phenotypes in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) |
| jimd12024-sup-0004-TableS4.docxWord 2007 document , 13.3 KB | Table S4 List of most frequented reported mutations for phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) |
| jimd12024-sup-0005-TableS5.docxWord 2007 document , 13.1 KB | Table S5 List of most common reported genotypes for phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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