Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
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| Title: | Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. |
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| Authors: | Brennenstuhl, Heiko1 (AUTHOR) Heiko.Brennenstuhl@med.uni-heidelberg.de, Didiasova, Miroslava2 (AUTHOR) Miroslava.Didiasova@biochemie.med.uni-giessen.de, Assmann, Birgit1 (AUTHOR) Birgit.Assmann@med.uni-heidelberg.de, Bertoldi, Mariarita3 (AUTHOR) Mita.Bertoldi@univr.it, Molla, Gianluca4 (AUTHOR) Gianluca.Molla@uninsubria.it, Jung-Klawitter, Sabine1 (AUTHOR) Sabine.Jung-Klawitter@med.uni-heidelberg.de, Kuseyri Hübschmann, Oya1 (AUTHOR) Oya.KuseyriHuebschmann@med.uni-heidelberg.de, Schröter, Julian1 (AUTHOR) Julian.Schroeter@med.uni-heidelberg.de, Opladen, Thomas1 (AUTHOR) Thomas.Opladen@med.uni-heidelberg.de, Tikkanen, Ritva2 (AUTHOR) Thomas.Opladen@med.uni-heidelberg.de |
| Source: | International Journal of Molecular Sciences. 11/15/2020, Vol. 21 Issue 22, p8578. 1p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 147276255 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Brennenstuhl%2C+Heiko%22">Brennenstuhl, Heiko</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Heiko.Brennenstuhl@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Didiasova%2C+Miroslava%22">Didiasova, Miroslava</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> Miroslava.Didiasova@biochemie.med.uni-giessen.de</i><br /><searchLink fieldCode="AR" term="%22Assmann%2C+Birgit%22">Assmann, Birgit</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Birgit.Assmann@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Bertoldi%2C+Mariarita%22">Bertoldi, Mariarita</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> Mita.Bertoldi@univr.it</i><br /><searchLink fieldCode="AR" term="%22Molla%2C+Gianluca%22">Molla, Gianluca</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> Gianluca.Molla@uninsubria.it</i><br /><searchLink fieldCode="AR" term="%22Jung-Klawitter%2C+Sabine%22">Jung-Klawitter, Sabine</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Sabine.Jung-Klawitter@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Kuseyri+Hübschmann%2C+Oya%22">Kuseyri Hübschmann, Oya</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Oya.KuseyriHuebschmann@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Schröter%2C+Julian%22">Schröter, Julian</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Julian.Schroeter@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Opladen%2C+Thomas%22">Opladen, Thomas</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Thomas.Opladen@med.uni-heidelberg.de</i><br /><searchLink fieldCode="AR" term="%22Tikkanen%2C+Ritva%22">Tikkanen, Ritva</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> Thomas.Opladen@med.uni-heidelberg.de</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. 11/15/2020, Vol. 21 Issue 22, p8578. 1p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=147276255 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijms21228578 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 1 StartPage: 8578 Titles: – TitleFull: Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Brennenstuhl, Heiko – PersonEntity: Name: NameFull: Didiasova, Miroslava – PersonEntity: Name: NameFull: Assmann, Birgit – PersonEntity: Name: NameFull: Bertoldi, Mariarita – PersonEntity: Name: NameFull: Molla, Gianluca – PersonEntity: Name: NameFull: Jung-Klawitter, Sabine – PersonEntity: Name: NameFull: Kuseyri Hübschmann, Oya – PersonEntity: Name: NameFull: Schröter, Julian – PersonEntity: Name: NameFull: Opladen, Thomas – PersonEntity: Name: NameFull: Tikkanen, Ritva IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 11 Text: 11/15/2020 Type: published Y: 2020 Identifiers: – Type: issn-print Value: 16616596 Numbering: – Type: volume Value: 21 – Type: issue Value: 22 Titles: – TitleFull: International Journal of Molecular Sciences Type: main |
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