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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.
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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  Data: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
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  Data: <searchLink fieldCode="AU" term="%22Altassan+R%22">Altassan R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Péanne+R%22">Péanne R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jaeken+J%22">Jaeken J</searchLink>; Department of Human Genetics, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Barone+R%22">Barone R</searchLink>; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Bidet+M%22">Bidet M</searchLink>; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France.<br /><searchLink fieldCode="AU" term="%22Borgel+D%22">Borgel D</searchLink>; INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France.<br /><searchLink fieldCode="AU" term="%22Brasil+S%22">Brasil S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cassiman+D%22">Cassiman D</searchLink>; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Cechova+A%22">Cechova A</searchLink>; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Coman+D%22">Coman D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Corral+J%22">Corral J</searchLink>; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Correia+J%22">Correia J</searchLink>; Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22de+la+Morena-Barrio+ME%22">de la Morena-Barrio ME</searchLink>; Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22de+Lonlay+P%22">de Lonlay P</searchLink>; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.<br /><searchLink fieldCode="AU" term="%22Dos+Reis+V%22">Dos Reis V</searchLink>; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.<br /><searchLink fieldCode="AU" term="%22Ferreira+CR%22">Ferreira CR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fiumara+A%22">Fiumara A</searchLink>; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Francisco+R%22">Francisco R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Freeze+H%22">Freeze H</searchLink>; Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.<br /><searchLink fieldCode="AU" term="%22Funke+S%22">Funke S</searchLink>; Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary.<br /><searchLink fieldCode="AU" term="%22Gardeitchik+T%22">Gardeitchik T</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gert+M%22">Gert M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Girad+M%22">Girad M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Giros+M%22">Giros M</searchLink>; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Grünewald+S%22">Grünewald S</searchLink>; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Hernández-Caselles+T%22">Hernández-Caselles T</searchLink>; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Honzik+T%22">Honzik T</searchLink>; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Hutter+M%22">Hutter M</searchLink>; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Krasnewich+D%22">Krasnewich D</searchLink>; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Lam+C%22">Lam C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Lefeber+D%22">Lefeber D</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Marques-de-Silva+D%22">Marques-de-Silva D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Martinez+AF%22">Martinez AF</searchLink>; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Moravej+H%22">Moravej H</searchLink>; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.<br /><searchLink fieldCode="AU" term="%22Õunap+K%22">Õunap K</searchLink>; Department of Pediatrics, University of Tartu, Tartu, Estonia.; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Pascoal+C%22">Pascoal C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pascreau+T%22">Pascreau T</searchLink>; AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Patterson+M%22">Patterson M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Quelhas+D%22">Quelhas D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Raymond+K%22">Raymond K</searchLink>; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota.<br /><searchLink fieldCode="AU" term="%22Sarkhail+P%22">Sarkhail P</searchLink>; Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran.<br /><searchLink fieldCode="AU" term="%22Schiff+M%22">Schiff M</searchLink>; Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France.<br /><searchLink fieldCode="AU" term="%22Seroczyńska+M%22">Seroczyńska M</searchLink>; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.<br /><searchLink fieldCode="AU" term="%22Serrano+M%22">Serrano M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Seta+N%22">Seta N</searchLink>; AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France.<br /><searchLink fieldCode="AU" term="%22Sykut-Cegielska+J%22">Sykut-Cegielska J</searchLink>; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Thiel+C%22">Thiel C</searchLink>; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Tort+F%22">Tort F</searchLink>; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Vals+MA%22">Vals MA</searchLink>; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Videira+P%22">Videira P</searchLink>; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.<br /><searchLink fieldCode="AU" term="%22Witters+P%22">Witters P</searchLink>; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Zeevaert+R%22">Zeevaert R</searchLink>; Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium.<br /><searchLink fieldCode="AU" term="%22Morava+E%22">Morava E</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, New York.; Department of Pediatrics, Tulane University, New Orleans, Louisiana.
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            NameFull: Fiumara A
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            NameFull: Francisco R
      – PersonEntity:
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            NameFull: Freeze H
      – PersonEntity:
          Name:
            NameFull: Funke S
      – PersonEntity:
          Name:
            NameFull: Gardeitchik T
      – PersonEntity:
          Name:
            NameFull: Gert M
      – PersonEntity:
          Name:
            NameFull: Girad M
      – PersonEntity:
          Name:
            NameFull: Giros M
      – PersonEntity:
          Name:
            NameFull: Grünewald S
      – PersonEntity:
          Name:
            NameFull: Hernández-Caselles T
      – PersonEntity:
          Name:
            NameFull: Honzik T
      – PersonEntity:
          Name:
            NameFull: Hutter M
      – PersonEntity:
          Name:
            NameFull: Krasnewich D
      – PersonEntity:
          Name:
            NameFull: Lam C
      – PersonEntity:
          Name:
            NameFull: Lee J
      – PersonEntity:
          Name:
            NameFull: Lefeber D
      – PersonEntity:
          Name:
            NameFull: Marques-de-Silva D
      – PersonEntity:
          Name:
            NameFull: Martinez AF
      – PersonEntity:
          Name:
            NameFull: Moravej H
      – PersonEntity:
          Name:
            NameFull: Õunap K
      – PersonEntity:
          Name:
            NameFull: Pascoal C
      – PersonEntity:
          Name:
            NameFull: Pascreau T
      – PersonEntity:
          Name:
            NameFull: Patterson M
      – PersonEntity:
          Name:
            NameFull: Quelhas D
      – PersonEntity:
          Name:
            NameFull: Raymond K
      – PersonEntity:
          Name:
            NameFull: Sarkhail P
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            NameFull: Schiff M
      – PersonEntity:
          Name:
            NameFull: Seroczyńska M
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          Name:
            NameFull: Serrano M
      – PersonEntity:
          Name:
            NameFull: Seta N
      – PersonEntity:
          Name:
            NameFull: Sykut-Cegielska J
      – PersonEntity:
          Name:
            NameFull: Thiel C
      – PersonEntity:
          Name:
            NameFull: Tort F
      – PersonEntity:
          Name:
            NameFull: Vals MA
      – PersonEntity:
          Name:
            NameFull: Videira P
      – PersonEntity:
          Name:
            NameFull: Witters P
      – PersonEntity:
          Name:
            NameFull: Zeevaert R
      – PersonEntity:
          Name:
            NameFull: Morava E
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: 2019 Jan
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-electronic
              Value: 1573-2665
          Numbering:
            – Type: volume
              Value: 42
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Journal of inherited metabolic disease
              Type: main
ResultId 1