Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
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| Title: | Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 24334290 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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