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A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

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Title: A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Authors: Kager L; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria., Jimenez-Heredia R; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria., Zeitlhofer P; Labdia Labordiagnostik Vienna Austria., Novak W; St. Anna Children's Hospital Medical University of Vienna Vienna Austria., Eder SK; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria., Segarra-Roca A; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria., Frohne A; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria., Nebral K; Labdia Labordiagnostik Vienna Austria., Haimel M; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria., Geyeregger R; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria., Roetzer-Londgin K; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Labdia Labordiagnostik Vienna Austria., Haas OA; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Labdia Labordiagnostik Vienna Austria., Boztug K; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria.
Source: HemaSphere [Hemasphere] 2024 Jan 26; Vol. 8 (1), pp. e31. Date of Electronic Publication: 2024 Jan 26 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
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  Data: <searchLink fieldCode="AU" term="%22Kager+L%22">Kager L</searchLink>; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Jimenez-Heredia+R%22">Jimenez-Heredia R</searchLink>; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Zeitlhofer+P%22">Zeitlhofer P</searchLink>; Labdia Labordiagnostik Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Novak+W%22">Novak W</searchLink>; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Eder+SK%22">Eder SK</searchLink>; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Segarra-Roca+A%22">Segarra-Roca A</searchLink>; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Frohne+A%22">Frohne A</searchLink>; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Nebral+K%22">Nebral K</searchLink>; Labdia Labordiagnostik Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Haimel+M%22">Haimel M</searchLink>; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Geyeregger+R%22">Geyeregger R</searchLink>; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Roetzer-Londgin+K%22">Roetzer-Londgin K</searchLink>; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Labdia Labordiagnostik Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Haas+OA%22">Haas OA</searchLink>; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Labdia Labordiagnostik Vienna Austria.<br /><searchLink fieldCode="AU" term="%22Boztug+K%22">Boztug K</searchLink>; St. Anna Children's Hospital Medical University of Vienna Vienna Austria.; St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.; Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101740619 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2572-9241 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2225729241%22">25729241 </searchLink><i>NLM ISO Abbreviation: </i>Hemasphere <i>Subsets: </i>PubMed not MEDLINE
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