Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
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| Title: | Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). |
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| Authors: | Bodamer OA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA., Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F |
| Source: | American journal of medical genetics [Am J Med Genet] 2002 May 15; Vol. 109 (4), pp. 328-31. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 11992489 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bodamer+OA%22">Bodamer OA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Church+HJ%22">Church HJ</searchLink><br /><searchLink fieldCode="AU" term="%22Cooper+A%22">Cooper A</searchLink><br /><searchLink fieldCode="AU" term="%22Wraith+JE%22">Wraith JE</searchLink><br /><searchLink fieldCode="AU" term="%22Scott+CR%22">Scott CR</searchLink><br /><searchLink fieldCode="AU" term="%22Scaglia+F%22">Scaglia F</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227708900%22">American journal of medical genetics</searchLink> [Am J Med Genet] 2002 May 15; Vol. 109 (4), pp. 328-31. – 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="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7708900 <i>Publication Model: </i>Print <i>Cited Medium: </i>Print <i>ISSN: </i>0148-7299 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201487299%22">01487299 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=11992489 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.10385 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 328 Titles: – TitleFull: Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bodamer OA – PersonEntity: Name: NameFull: Church HJ – PersonEntity: Name: NameFull: Cooper A – PersonEntity: Name: NameFull: Wraith JE – PersonEntity: Name: NameFull: Scott CR – PersonEntity: Name: NameFull: Scaglia F IsPartOfRelationships: – BibEntity: Dates: – D: 15 M: 05 Text: 2002 May 15 Type: published Y: 2002 Identifiers: – Type: issn-print Value: 0148-7299 Numbering: – Type: volume Value: 109 – Type: issue Value: 4 Titles: – TitleFull: American journal of medical genetics Type: main |
| ResultId | 1 |
