Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Saved in:
Bibliographic Details
Title: Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Authors: Baker PR 2nd; 1 Department of Pediatrics, University of Colorado, Aurora, Colorado, 80045, USA., Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL
Source: Brain : a journal of neurology [Brain] 2014 Feb; Vol. 137 (Pt 2), pp. 366-79. Date of Electronic Publication: 2013 Dec 11.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; 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: 24334290
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Baker+PR+2nd%22">Baker PR 2nd</searchLink>; 1 Department of Pediatrics, University of Colorado, Aurora, Colorado, 80045, USA.<br /><searchLink fieldCode="AU" term="%22Friederich+MW%22">Friederich MW</searchLink><br /><searchLink fieldCode="AU" term="%22Swanson+MA%22">Swanson MA</searchLink><br /><searchLink fieldCode="AU" term="%22Shaikh+T%22">Shaikh T</searchLink><br /><searchLink fieldCode="AU" term="%22Bhattacharya+K%22">Bhattacharya K</searchLink><br /><searchLink fieldCode="AU" term="%22Scharer+GH%22">Scharer GH</searchLink><br /><searchLink fieldCode="AU" term="%22Aicher+J%22">Aicher J</searchLink><br /><searchLink fieldCode="AU" term="%22Creadon-Swindell+G%22">Creadon-Swindell G</searchLink><br /><searchLink fieldCode="AU" term="%22Geiger+E%22">Geiger E</searchLink><br /><searchLink fieldCode="AU" term="%22MacLean+KN%22">MacLean KN</searchLink><br /><searchLink fieldCode="AU" term="%22Lee+WT%22">Lee WT</searchLink><br /><searchLink fieldCode="AU" term="%22Deshpande+C%22">Deshpande C</searchLink><br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink><br /><searchLink fieldCode="AU" term="%22Shih+LY%22">Shih LY</searchLink><br /><searchLink fieldCode="AU" term="%22Wasserstein+M%22">Wasserstein M</searchLink><br /><searchLink fieldCode="AU" term="%22Rasmussen+MB%22">Rasmussen MB</searchLink><br /><searchLink fieldCode="AU" term="%22Lund+AM%22">Lund AM</searchLink><br /><searchLink fieldCode="AU" term="%22Procopis+P%22">Procopis P</searchLink><br /><searchLink fieldCode="AU" term="%22Cameron+JM%22">Cameron JM</searchLink><br /><searchLink fieldCode="AU" term="%22Robinson+BH%22">Robinson BH</searchLink><br /><searchLink fieldCode="AU" term="%22Brown+GK%22">Brown GK</searchLink><br /><searchLink fieldCode="AU" term="%22Brown+RM%22">Brown RM</searchLink><br /><searchLink fieldCode="AU" term="%22Compton+AG%22">Compton AG</searchLink><br /><searchLink fieldCode="AU" term="%22Dieckmann+CL%22">Dieckmann CL</searchLink><br /><searchLink fieldCode="AU" term="%22Collard+R%22">Collard R</searchLink><br /><searchLink fieldCode="AU" term="%22Coughlin+CR+2nd%22">Coughlin CR 2nd</searchLink><br /><searchLink fieldCode="AU" term="%22Spector+E%22">Spector E</searchLink><br /><searchLink fieldCode="AU" term="%22Wempe+MF%22">Wempe MF</searchLink><br /><searchLink fieldCode="AU" term="%22Van+Hove+JL%22">Van Hove JL</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2014 Feb; Vol. 137 (Pt 2), pp. 366-79. <i>Date of Electronic Publication: </i>2013 Dec 11.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural; 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=24334290
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1093/brain/awt328
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 366
    Titles:
      – TitleFull: Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Baker PR 2nd
      – PersonEntity:
          Name:
            NameFull: Friederich MW
      – PersonEntity:
          Name:
            NameFull: Swanson MA
      – PersonEntity:
          Name:
            NameFull: Shaikh T
      – PersonEntity:
          Name:
            NameFull: Bhattacharya K
      – PersonEntity:
          Name:
            NameFull: Scharer GH
      – PersonEntity:
          Name:
            NameFull: Aicher J
      – PersonEntity:
          Name:
            NameFull: Creadon-Swindell G
      – PersonEntity:
          Name:
            NameFull: Geiger E
      – PersonEntity:
          Name:
            NameFull: MacLean KN
      – PersonEntity:
          Name:
            NameFull: Lee WT
      – PersonEntity:
          Name:
            NameFull: Deshpande C
      – PersonEntity:
          Name:
            NameFull: Freckmann ML
      – PersonEntity:
          Name:
            NameFull: Shih LY
      – PersonEntity:
          Name:
            NameFull: Wasserstein M
      – PersonEntity:
          Name:
            NameFull: Rasmussen MB
      – PersonEntity:
          Name:
            NameFull: Lund AM
      – PersonEntity:
          Name:
            NameFull: Procopis P
      – PersonEntity:
          Name:
            NameFull: Cameron JM
      – PersonEntity:
          Name:
            NameFull: Robinson BH
      – PersonEntity:
          Name:
            NameFull: Brown GK
      – PersonEntity:
          Name:
            NameFull: Brown RM
      – PersonEntity:
          Name:
            NameFull: Compton AG
      – PersonEntity:
          Name:
            NameFull: Dieckmann CL
      – PersonEntity:
          Name:
            NameFull: Collard R
      – PersonEntity:
          Name:
            NameFull: Coughlin CR 2nd
      – PersonEntity:
          Name:
            NameFull: Spector E
      – PersonEntity:
          Name:
            NameFull: Wempe MF
      – PersonEntity:
          Name:
            NameFull: Van Hove JL
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 02
              Text: 2014 Feb
              Type: published
              Y: 2014
          Identifiers:
            – Type: issn-electronic
              Value: 1460-2156
          Numbering:
            – Type: volume
              Value: 137
            – Type: issue
              Value: Pt 2
          Titles:
            – TitleFull: Brain : a journal of neurology
              Type: main
ResultId 1