Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
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| Title: | Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 24566669 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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