Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
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| Title: | Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. |
|---|---|
| Authors: | Shahrour, M.A.1, Staretz‐Chacham, O.2, Dayan, D.3, Stephen, J.4, Weech, A.5, Damseh, N.1, Pri Chen, H.3,4,6, Edvardson, S.7, Mazaheri, S.4, Saada, A.8, Hershkovitz, E.2, Shaag, A.9, Huizing, M.4, Abu‐Libdeh, B.1, Gahl, W.A4,5, Azem, A.3 azema@tauex.tau.ac.il, Anikster, Y.10,11, Vilboux, T.5,12, Elpeleg, O.9 Elpeleg@hadassah.org.il, Malicdan, M.C.4,5 |
| Source: | Clinical Genetics. May2017, Vol. 91 Issue 5, p690-696. 8p. 1 Black and White Photograph, 2 Diagrams. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 122451655 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=122451655 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12855 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 690 Titles: – TitleFull: Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Shahrour, M.A. – PersonEntity: Name: NameFull: Staretz‐Chacham, O. – PersonEntity: Name: NameFull: Dayan, D. – PersonEntity: Name: NameFull: Stephen, J. – PersonEntity: Name: NameFull: Weech, A. – PersonEntity: Name: NameFull: Damseh, N. – PersonEntity: Name: NameFull: Pri Chen, H. – PersonEntity: Name: NameFull: Edvardson, S. – PersonEntity: Name: NameFull: Mazaheri, S. – PersonEntity: Name: NameFull: Saada, A. – PersonEntity: Name: NameFull: Hershkovitz, E. – PersonEntity: Name: NameFull: Shaag, A. – PersonEntity: Name: NameFull: Huizing, M. – PersonEntity: Name: NameFull: Abu‐Libdeh, B. – PersonEntity: Name: NameFull: Gahl, W.A – PersonEntity: Name: NameFull: Azem, A. – PersonEntity: Name: NameFull: Anikster, Y. – PersonEntity: Name: NameFull: Vilboux, T. – PersonEntity: Name: NameFull: Elpeleg, O. – PersonEntity: Name: NameFull: Malicdan, M.C. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: May2017 Type: published Y: 2017 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 91 – Type: issue Value: 5 Titles: – TitleFull: Clinical Genetics Type: main |
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