View in EDS HTML Full Text PDF Full Text

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Saved in:
Bibliographic Details
Title: Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
Authors: den Hollander B; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands., Brands MM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands., de Boer L; United for Metabolic Diseases, Amsterdam, The Netherlands.; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands., Haaxma CA; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Lengyel A; Pediatric Center, Semmelweis University, Budapest, Hungary., van Essen P; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands., Peters G; Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Kwast HJT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Klein WM; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands., Coene KLM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Laboratory of Clinical Chemistry and Haematology, Máxima Medical Centre, Veldhoven, The Netherlands., Lefeber DJ; United for Metabolic Diseases, Amsterdam, The Netherlands.; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 956-971. Date of Electronic Publication: 2023 Jul 08.
Publication Type: Observational Study; Journal Article; 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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 37340906
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22den+Hollander+B%22">den Hollander B</searchLink>; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Brands+MM%22">Brands MM</searchLink>; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Boer+L%22">de Boer L</searchLink>; United for Metabolic Diseases, Amsterdam, The Netherlands.; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Haaxma+CA%22">Haaxma CA</searchLink>; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lengyel+A%22">Lengyel A</searchLink>; Pediatric Center, Semmelweis University, Budapest, Hungary.<br /><searchLink fieldCode="AU" term="%22van+Essen+P%22">van Essen P</searchLink>; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Peters+G%22">Peters G</searchLink>; Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kwast+HJT%22">Kwast HJT</searchLink>; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Klein+WM%22">Klein WM</searchLink>; Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Coene+KLM%22">Coene KLM</searchLink>; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Laboratory of Clinical Chemistry and Haematology, Máxima Medical Centre, Veldhoven, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lefeber+DJ%22">Lefeber DJ</searchLink>; United for Metabolic Diseases, Amsterdam, The Netherlands.; Radboud University Medical Center, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Karnebeek+CDM%22">van Karnebeek CDM</searchLink>; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.; United for Metabolic Diseases, Amsterdam, The Netherlands.; Emma Center for Personalized Medicine, Amsterdam Reproduction and Development, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Human Genetics, Amsterdam UMC Location University of Amsterdam, Amsterdam, The Netherlands.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227910918%22">Journal of inherited metabolic disease</searchLink> [J Inherit Metab Dis] 2023 Sep; Vol. 46 (5), pp. 956-971. <i>Date of Electronic Publication: </i>2023 Jul 08.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Observational Study; Journal Article; 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=37340906
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/jimd.12643
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 956
    Titles:
      – TitleFull: Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: den Hollander B
      – PersonEntity:
          Name:
            NameFull: Brands MM
      – PersonEntity:
          Name:
            NameFull: de Boer L
      – PersonEntity:
          Name:
            NameFull: Haaxma CA
      – PersonEntity:
          Name:
            NameFull: Lengyel A
      – PersonEntity:
          Name:
            NameFull: van Essen P
      – PersonEntity:
          Name:
            NameFull: Peters G
      – PersonEntity:
          Name:
            NameFull: Kwast HJT
      – PersonEntity:
          Name:
            NameFull: Klein WM
      – PersonEntity:
          Name:
            NameFull: Coene KLM
      – PersonEntity:
          Name:
            NameFull: Lefeber DJ
      – PersonEntity:
          Name:
            NameFull: van Karnebeek CDM
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 09
              Text: 2023 Sep
              Type: published
              Y: 2023
          Identifiers:
            – Type: issn-electronic
              Value: 1573-2665
          Numbering:
            – Type: volume
              Value: 46
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: Journal of inherited metabolic disease
              Type: main
ResultId 1