A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
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| Title: | A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. |
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| Authors: | Tulinius, M´r1 mar.tulinius@vgregion.se, Darin, Niklas1, Wiklund, Lars-Martin1, Holmberg, Eva2, Eriksson, Jan Erik3, Lissens, Willy4, De Meirleir, Linda4, Holme, Elisabeth5, Tulinius, Már6 (AUTHOR) |
| Source: | European Journal of Pediatrics. Feb2005, Vol. 164 Issue 2, p99-103. 5p. 2 Diagrams, 3 Charts. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 16004657 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Tulinius%2C+M´r%22">Tulinius, M´r</searchLink><relatesTo>1</relatesTo><i> mar.tulinius@vgregion.se</i><br /><searchLink fieldCode="AR" term="%22Darin%2C+Niklas%22">Darin, Niklas</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Wiklund%2C+Lars-Martin%22">Wiklund, Lars-Martin</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Holmberg%2C+Eva%22">Holmberg, Eva</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Eriksson%2C+Jan+Erik%22">Eriksson, Jan Erik</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AR" term="%22Lissens%2C+Willy%22">Lissens, Willy</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22De+Meirleir%2C+Linda%22">De Meirleir, Linda</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AR" term="%22Holme%2C+Elisabeth%22">Holme, Elisabeth</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AR" term="%22Tulinius%2C+Már%22">Tulinius, Már</searchLink><relatesTo>6</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Pediatrics%22">European Journal of Pediatrics</searchLink>. Feb2005, Vol. 164 Issue 2, p99-103. 5p. 2 Diagrams, 3 Charts. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=16004657 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00431-004-1570-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 99 Titles: – TitleFull: A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tulinius, M´r – PersonEntity: Name: NameFull: Darin, Niklas – PersonEntity: Name: NameFull: Wiklund, Lars-Martin – PersonEntity: Name: NameFull: Holmberg, Eva – PersonEntity: Name: NameFull: Eriksson, Jan Erik – PersonEntity: Name: NameFull: Lissens, Willy – PersonEntity: Name: NameFull: De Meirleir, Linda – PersonEntity: Name: NameFull: Holme, Elisabeth – PersonEntity: Name: NameFull: Tulinius, Már IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: Feb2005 Type: published Y: 2005 Identifiers: – Type: issn-print Value: 03406199 Numbering: – Type: volume Value: 164 – Type: issue Value: 2 Titles: – TitleFull: European Journal of Pediatrics Type: main |
| ResultId | 1 |
