Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment.
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| Title: | Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment. |
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| Authors: | Schiffmann, Raphael1 (AUTHOR), Turnbull, James2 (AUTHOR), Krupnick, Robert3 (AUTHOR), Pulikottil-Jacob, Ruth4 (AUTHOR) ruthjacobmg@gmail.com, Gwaltney, Chad5 (AUTHOR), Hamed, Alaa6 (AUTHOR), Batsu, Isabela7 (AUTHOR), Heine, Walter6 (AUTHOR), Mengel, Eugen8 (AUTHOR) |
| Source: | Orphanet Journal of Rare Diseases. 4/10/2025, Vol. 20 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 184390061 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Schiffmann%2C+Raphael%22">Schiffmann, Raphael</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Turnbull%2C+James%22">Turnbull, James</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Krupnick%2C+Robert%22">Krupnick, Robert</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Pulikottil-Jacob%2C+Ruth%22">Pulikottil-Jacob, Ruth</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> ruthjacobmg@gmail.com</i><br /><searchLink fieldCode="AR" term="%22Gwaltney%2C+Chad%22">Gwaltney, Chad</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hamed%2C+Alaa%22">Hamed, Alaa</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Batsu%2C+Isabela%22">Batsu, Isabela</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Heine%2C+Walter%22">Heine, Walter</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mengel%2C+Eugen%22">Mengel, Eugen</searchLink><relatesTo>8</relatesTo> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 4/10/2025, Vol. 20 Issue 1, p1-12. 12p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=184390061 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03654-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schiffmann, Raphael – PersonEntity: Name: NameFull: Turnbull, James – PersonEntity: Name: NameFull: Krupnick, Robert – PersonEntity: Name: NameFull: Pulikottil-Jacob, Ruth – PersonEntity: Name: NameFull: Gwaltney, Chad – PersonEntity: Name: NameFull: Hamed, Alaa – PersonEntity: Name: NameFull: Batsu, Isabela – PersonEntity: Name: NameFull: Heine, Walter – PersonEntity: Name: NameFull: Mengel, Eugen IsPartOfRelationships: – BibEntity: Dates: – D: 10 M: 04 Text: 4/10/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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