View in EDS HTML Full Text PDF Full Text

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Saved in:
Bibliographic Details
Title: A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
Authors: Padmakumar M; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium., Jaeken J; Department of Development and Regeneration, Pediatrics KU Leuven Leuven Belgium., Ramaekers V; Department of Neuropediatrics Centre Hospitalier Universitaire Notre-Dame des Bruyères Liége Belgium., Lagae L; Department of Development and Regeneration, Pediatrics KU Leuven Leuven Belgium., Greene D; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.; Department of Haematology, Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus Cambridge UK., Thys C; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium., Van Geet C; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium., BioResource N; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK., Stirrups K; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK., Downes K; Department of Haematology, NHS Blood and Transplant, Cambridge Biomedical Campus Cambridge UK.; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK., Turro E; Department of Haematology, NHS Blood and Transplant, Cambridge Biomedical Campus Cambridge UK.; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.; Department of Haematology, Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus Cambridge UK., Freson K; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium.
Source: JIMD reports [JIMD Rep] 2019 Mar 25; Vol. 47 (1), pp. 9-16. Date of Electronic Publication: 2019 Mar 25 (Print Publication: 2019).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not 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: 31240161
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Padmakumar+M%22">Padmakumar M</searchLink>; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium.<br /><searchLink fieldCode="AU" term="%22Jaeken+J%22">Jaeken J</searchLink>; Department of Development and Regeneration, Pediatrics KU Leuven Leuven Belgium.<br /><searchLink fieldCode="AU" term="%22Ramaekers+V%22">Ramaekers V</searchLink>; Department of Neuropediatrics Centre Hospitalier Universitaire Notre-Dame des Bruyères Liége Belgium.<br /><searchLink fieldCode="AU" term="%22Lagae+L%22">Lagae L</searchLink>; Department of Development and Regeneration, Pediatrics KU Leuven Leuven Belgium.<br /><searchLink fieldCode="AU" term="%22Greene+D%22">Greene D</searchLink>; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.; Department of Haematology, Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus Cambridge UK.<br /><searchLink fieldCode="AU" term="%22Thys+C%22">Thys C</searchLink>; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Geet+C%22">Van Geet C</searchLink>; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium.<br /><searchLink fieldCode="AU" term="%22BioResource+N%22">BioResource N</searchLink>; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.<br /><searchLink fieldCode="AU" term="%22Stirrups+K%22">Stirrups K</searchLink>; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.<br /><searchLink fieldCode="AU" term="%22Downes+K%22">Downes K</searchLink>; Department of Haematology, NHS Blood and Transplant, Cambridge Biomedical Campus Cambridge UK.; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.<br /><searchLink fieldCode="AU" term="%22Turro+E%22">Turro E</searchLink>; Department of Haematology, NHS Blood and Transplant, Cambridge Biomedical Campus Cambridge UK.; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.; Department of Haematology, Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus Cambridge UK.<br /><searchLink fieldCode="AU" term="%22Freson+K%22">Freson K</searchLink>; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2019 Mar 25; Vol. 47 (1), pp. 9-16. <i>Date of Electronic Publication: </i>2019 Mar 25 (<i>Print Publication: </i>2019).
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article
– 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>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31240161
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/jmd2.12030
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 9
    Titles:
      – TitleFull: A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Padmakumar M
      – PersonEntity:
          Name:
            NameFull: Jaeken J
      – PersonEntity:
          Name:
            NameFull: Ramaekers V
      – PersonEntity:
          Name:
            NameFull: Lagae L
      – PersonEntity:
          Name:
            NameFull: Greene D
      – PersonEntity:
          Name:
            NameFull: Thys C
      – PersonEntity:
          Name:
            NameFull: Van Geet C
      – PersonEntity:
          Name:
            NameFull: BioResource N
      – PersonEntity:
          Name:
            NameFull: Stirrups K
      – PersonEntity:
          Name:
            NameFull: Downes K
      – PersonEntity:
          Name:
            NameFull: Turro E
      – PersonEntity:
          Name:
            NameFull: Freson K
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 25
              M: 03
              Text: 2019 Mar 25
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-print
              Value: 2192-8304
          Numbering:
            – Type: volume
              Value: 47
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: JIMD reports
              Type: main
ResultId 1