A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
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| Title: | A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. |
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| Authors: | Herzog, Andreas1, Hartung, Ralf1, Reuser, Arnold J. J.2, Hermanns, Pia1, Runz, Heiko3, Karabul, Nesrin1, G�kce, Seyfullah1, Pohlenz, Joachim1, Kampmann, Christoph1, Lampe, Christina1, Beck, Michael1, Mengel, Eugen1 |
| Source: | Orphanet Journal of Rare Diseases. 2012, Vol. 7 Issue 1, p35-48. 14p. 1 Diagram, 5 Charts, 4 Graphs. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 83184190 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=83184190 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/1750-1172-7-35 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 14 StartPage: 35 Titles: – TitleFull: A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Herzog, Andreas – PersonEntity: Name: NameFull: Hartung, Ralf – PersonEntity: Name: NameFull: Reuser, Arnold J. J. – PersonEntity: Name: NameFull: Hermanns, Pia – PersonEntity: Name: NameFull: Runz, Heiko – PersonEntity: Name: NameFull: Karabul, Nesrin – PersonEntity: Name: NameFull: G�kce, Seyfullah – PersonEntity: Name: NameFull: Pohlenz, Joachim – PersonEntity: Name: NameFull: Kampmann, Christoph – PersonEntity: Name: NameFull: Lampe, Christina – PersonEntity: Name: NameFull: Beck, Michael – PersonEntity: Name: NameFull: Mengel, Eugen IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2012 Type: published Y: 2012 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 7 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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