Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Saved in:
Bibliographic Details
Title: Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Authors: Van Scherpenzeel M; 1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands., Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ
Source: Brain : a journal of neurology [Brain] 2014 Apr; Vol. 137 (Pt 4), pp. 1030-8. Date of Electronic Publication: 2014 Feb 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Links:
  – Type: pdflink
Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 24566669
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Van+Scherpenzeel+M%22">Van Scherpenzeel M</searchLink>; 1 Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Timal+S%22">Timal S</searchLink><br /><searchLink fieldCode="AU" term="%22Rymen+D%22">Rymen D</searchLink><br /><searchLink fieldCode="AU" term="%22Hoischen+A%22">Hoischen A</searchLink><br /><searchLink fieldCode="AU" term="%22Wuhrer+M%22">Wuhrer M</searchLink><br /><searchLink fieldCode="AU" term="%22Hipgrave-Ederveen+A%22">Hipgrave-Ederveen A</searchLink><br /><searchLink fieldCode="AU" term="%22Grunewald+S%22">Grunewald S</searchLink><br /><searchLink fieldCode="AU" term="%22Peanne+R%22">Peanne R</searchLink><br /><searchLink fieldCode="AU" term="%22Saada+A%22">Saada A</searchLink><br /><searchLink fieldCode="AU" term="%22Edvardson+S%22">Edvardson S</searchLink><br /><searchLink fieldCode="AU" term="%22Grønborg+S%22">Grønborg S</searchLink><br /><searchLink fieldCode="AU" term="%22Ruijter+G%22">Ruijter G</searchLink><br /><searchLink fieldCode="AU" term="%22Kattentidt-Mouravieva+A%22">Kattentidt-Mouravieva A</searchLink><br /><searchLink fieldCode="AU" term="%22Brum+JM%22">Brum JM</searchLink><br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink><br /><searchLink fieldCode="AU" term="%22Tomkins+S%22">Tomkins S</searchLink><br /><searchLink fieldCode="AU" term="%22Jalan+A%22">Jalan A</searchLink><br /><searchLink fieldCode="AU" term="%22Prochazkova+D%22">Prochazkova D</searchLink><br /><searchLink fieldCode="AU" term="%22Ondruskova+N%22">Ondruskova N</searchLink><br /><searchLink fieldCode="AU" term="%22Hansikova+H%22">Hansikova H</searchLink><br /><searchLink fieldCode="AU" term="%22Willemsen+MA%22">Willemsen MA</searchLink><br /><searchLink fieldCode="AU" term="%22Hensbergen+PJ%22">Hensbergen PJ</searchLink><br /><searchLink fieldCode="AU" term="%22Matthijs+G%22">Matthijs G</searchLink><br /><searchLink fieldCode="AU" term="%22Wevers+RA%22">Wevers RA</searchLink><br /><searchLink fieldCode="AU" term="%22Veltman+JA%22">Veltman JA</searchLink><br /><searchLink fieldCode="AU" term="%22Morava+E%22">Morava E</searchLink><br /><searchLink fieldCode="AU" term="%22Lefeber+DJ%22">Lefeber DJ</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2014 Apr; Vol. 137 (Pt 4), pp. 1030-8. <i>Date of Electronic Publication: </i>2014 Feb 24.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0372537 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2156 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200068950%22">00068950 </searchLink><i>NLM ISO Abbreviation: </i>Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=24566669
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awu019
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 1030
    Titles:
      – TitleFull: Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Van Scherpenzeel M
      – PersonEntity:
          Name:
            NameFull: Timal S
      – PersonEntity:
          Name:
            NameFull: Rymen D
      – PersonEntity:
          Name:
            NameFull: Hoischen A
      – PersonEntity:
          Name:
            NameFull: Wuhrer M
      – PersonEntity:
          Name:
            NameFull: Hipgrave-Ederveen A
      – PersonEntity:
          Name:
            NameFull: Grunewald S
      – PersonEntity:
          Name:
            NameFull: Peanne R
      – PersonEntity:
          Name:
            NameFull: Saada A
      – PersonEntity:
          Name:
            NameFull: Edvardson S
      – PersonEntity:
          Name:
            NameFull: Grønborg S
      – PersonEntity:
          Name:
            NameFull: Ruijter G
      – PersonEntity:
          Name:
            NameFull: Kattentidt-Mouravieva A
      – PersonEntity:
          Name:
            NameFull: Brum JM
      – PersonEntity:
          Name:
            NameFull: Freckmann ML
      – PersonEntity:
          Name:
            NameFull: Tomkins S
      – PersonEntity:
          Name:
            NameFull: Jalan A
      – PersonEntity:
          Name:
            NameFull: Prochazkova D
      – PersonEntity:
          Name:
            NameFull: Ondruskova N
      – PersonEntity:
          Name:
            NameFull: Hansikova H
      – PersonEntity:
          Name:
            NameFull: Willemsen MA
      – PersonEntity:
          Name:
            NameFull: Hensbergen PJ
      – PersonEntity:
          Name:
            NameFull: Matthijs G
      – PersonEntity:
          Name:
            NameFull: Wevers RA
      – PersonEntity:
          Name:
            NameFull: Veltman JA
      – PersonEntity:
          Name:
            NameFull: Morava E
      – PersonEntity:
          Name:
            NameFull: Lefeber DJ
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2014 Apr
              Type: published
              Y: 2014
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 137
            – Type: issue
              Value: Pt 4
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1