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; Department of Paediatrics, Sahlgrenska University Hospital/Ostra, 41685 Göteborg, Sweden. mar.tulinius@vgregion.se, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E |
| Source: | European journal of pediatrics [Eur J Pediatr] 2005 Feb; Vol. 164 (2), pp. 99-103. Date of Electronic Publication: 2004 Nov 19. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6199 (Print) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 15558317 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="AU" term="%22Tulinius+M%22">Tulinius M</searchLink>; Department of Paediatrics, Sahlgrenska University Hospital/Ostra, 41685 Göteborg, Sweden. mar.tulinius@vgregion.se<br /><searchLink fieldCode="AU" term="%22Darin+N%22">Darin N</searchLink><br /><searchLink fieldCode="AU" term="%22Wiklund+LM%22">Wiklund LM</searchLink><br /><searchLink fieldCode="AU" term="%22Holmberg+E%22">Holmberg E</searchLink><br /><searchLink fieldCode="AU" term="%22Eriksson+JE%22">Eriksson JE</searchLink><br /><searchLink fieldCode="AU" term="%22Lissens+W%22">Lissens W</searchLink><br /><searchLink fieldCode="AU" term="%22De+Meirleir+L%22">De Meirleir L</searchLink><br /><searchLink fieldCode="AU" term="%22Holme+E%22">Holme E</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227603873%22">European journal of pediatrics</searchLink> [Eur J Pediatr] 2005 Feb; Vol. 164 (2), pp. 99-103. <i>Date of Electronic Publication: </i>2004 Nov 19. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7603873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>0340-6199 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406199%22">03406199 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Pediatr <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=15558317 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00431-004-1570-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: 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 – PersonEntity: Name: NameFull: Darin N – PersonEntity: Name: NameFull: Wiklund LM – PersonEntity: Name: NameFull: Holmberg E – PersonEntity: Name: NameFull: Eriksson JE – PersonEntity: Name: NameFull: Lissens W – PersonEntity: Name: NameFull: De Meirleir L – PersonEntity: Name: NameFull: Holme E IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: 2005 Feb Type: published Y: 2005 Identifiers: – Type: issn-print Value: 0340-6199 Numbering: – Type: volume Value: 164 – Type: issue Value: 2 Titles: – TitleFull: European journal of pediatrics Type: main |
| ResultId | 1 |
