Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
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| Title: | Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations. |
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| Authors: | Holubova V; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Barone R; Child Neuropsychiatry-Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Oasi Research Institute-IRCCS, Troina, Italy., Grunewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK., Tesařová M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Hansíková H; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Augustínová J; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland., De Nictolis F; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Diaz-Moreno U; 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., Elangovan R; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK., Epifani F; 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., Gasperini S; Department of Pediatrics, Milano-Bicocca University, San Gerardo Hospital, Monza, Italy., Jansen M; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Lefeber D; Department of Human Genetics and Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Maksym-Gasiorek D; One Day Clinic, The Institute of Mother and Child, Warsaw, Poland., Diego M; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Ounap K; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia., Pettinato F; Child Neuropsychiatry-Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Põder H; Tallinn Children's Hospital, Tallinn, Estonia., Rymen D; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Vals MA; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., 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., Witters P; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Honzík T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. |
| Source: | Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12826. Date of Electronic Publication: 2024 Dec 05. |
| Publication Type: | Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39633515 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Holubova+V%22">Holubova V</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Barone+R%22">Barone R</searchLink>; Child Neuropsychiatry-Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Oasi Research Institute-IRCCS, Troina, Italy.<br /><searchLink fieldCode="AU" term="%22Grunewald+S%22">Grunewald 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="%22Tesařová+M%22">Tesařová M</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Hansíková+H%22">Hansíková H</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Augustínová+J%22">Augustínová J</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Sykut-Cegielska+J%22">Sykut-Cegielska J</searchLink>; Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22De+Nictolis+F%22">De Nictolis F</searchLink>; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Diaz-Moreno+U%22">Diaz-Moreno U</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="%22Elangovan+R%22">Elangovan R</searchLink>; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Epifani+F%22">Epifani F</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="%22Gasperini+S%22">Gasperini S</searchLink>; Department of Pediatrics, Milano-Bicocca University, San Gerardo Hospital, Monza, Italy.<br /><searchLink fieldCode="AU" term="%22Jansen+M%22">Jansen M</searchLink>; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lefeber+D%22">Lefeber D</searchLink>; Department of Human Genetics and Neurology, Translational Metabolic Laboratory, Donders Center for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Maksym-Gasiorek+D%22">Maksym-Gasiorek D</searchLink>; One Day Clinic, The Institute of Mother and Child, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Diego+M%22">Diego M</searchLink>; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Ounap+K%22">Ounap K</searchLink>; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.<br /><searchLink fieldCode="AU" term="%22Pettinato+F%22">Pettinato F</searchLink>; Child Neuropsychiatry-Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Põder+H%22">Põder H</searchLink>; Tallinn Children's Hospital, Tallinn, Estonia.<br /><searchLink fieldCode="AU" term="%22Rymen+D%22">Rymen D</searchLink>; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Vals+MA%22">Vals MA</searchLink>; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.<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="%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="%22Honzík+T%22">Honzík T</searchLink>; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2025 Jan; Vol. 48 (1), pp. e12826. <i>Date of Electronic Publication: </i>2024 Dec 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7910918 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2665 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201418955%22">01418955 </searchLink><i>NLM ISO Abbreviation: </i>J Inherit Metab Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39633515 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jimd.12826 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e12826 Titles: – TitleFull: Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Holubova V – PersonEntity: Name: NameFull: Barone R – PersonEntity: Name: NameFull: Grunewald S – PersonEntity: Name: NameFull: Tesařová M – PersonEntity: Name: NameFull: Hansíková H – PersonEntity: Name: NameFull: Augustínová J – PersonEntity: Name: NameFull: Sykut-Cegielska J – PersonEntity: Name: NameFull: De Nictolis F – PersonEntity: Name: NameFull: Diaz-Moreno U – PersonEntity: Name: NameFull: Elangovan R – PersonEntity: Name: NameFull: Epifani F – PersonEntity: Name: NameFull: Gasperini S – PersonEntity: Name: NameFull: Jansen M – PersonEntity: Name: NameFull: Lefeber D – PersonEntity: Name: NameFull: Maksym-Gasiorek D – PersonEntity: Name: NameFull: Diego M – PersonEntity: Name: NameFull: Ounap K – PersonEntity: Name: NameFull: Pettinato F – PersonEntity: Name: NameFull: Põder H – PersonEntity: Name: NameFull: Rymen D – PersonEntity: Name: NameFull: Vals MA – PersonEntity: Name: NameFull: Serrano M – PersonEntity: Name: NameFull: Witters P – PersonEntity: Name: NameFull: Honzík T IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2025 Jan Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1573-2665 Numbering: – Type: volume Value: 48 – Type: issue Value: 1 Titles: – TitleFull: Journal of inherited metabolic disease Type: main |
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