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Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

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Title: Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Authors: Balendran-Braun S; Department of Pathology, Medical University of Vienna, Vienna, Austria., Vinatzer U; ARCHIMED Life Science GmbH, Vienna, Austria., Liebmann-Reindl S; ARCHIMED Life Science GmbH, Vienna, Austria., Lux M; ARCHIMED Life Science GmbH, Vienna, Austria., Oliva P; ARCHIMED Life Science GmbH, Vienna, Austria., Sansen S; Sanofi Genzyme, Amsterdam, Netherlands., Mechtler T; ARCHIMED Life Science GmbH, Vienna, Austria., Kasper DC; ARCHIMED Life Science GmbH, Vienna, Austria., Streubel B; Department of Pathology, Medical University of Vienna, Vienna, Austria.
Source: Human mutation [Hum Mutat] 2024 Oct 22; Vol. 2024, pp. 6248437. Date of Electronic Publication: 2024 Oct 22 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
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  Data: <searchLink fieldCode="AU" term="%22Balendran-Braun+S%22">Balendran-Braun S</searchLink>; Department of Pathology, Medical University of Vienna, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Vinatzer+U%22">Vinatzer U</searchLink>; ARCHIMED Life Science GmbH, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Liebmann-Reindl+S%22">Liebmann-Reindl S</searchLink>; ARCHIMED Life Science GmbH, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Lux+M%22">Lux M</searchLink>; ARCHIMED Life Science GmbH, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Oliva+P%22">Oliva P</searchLink>; ARCHIMED Life Science GmbH, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Sansen+S%22">Sansen S</searchLink>; Sanofi Genzyme, Amsterdam, Netherlands.<br /><searchLink fieldCode="AU" term="%22Mechtler+T%22">Mechtler T</searchLink>; ARCHIMED Life Science GmbH, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Kasper+DC%22">Kasper DC</searchLink>; ARCHIMED Life Science GmbH, Vienna, Austria.<br /><searchLink fieldCode="AU" term="%22Streubel+B%22">Streubel B</searchLink>; Department of Pathology, Medical University of Vienna, Vienna, Austria.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2024 Oct 22; Vol. 2024, pp. 6248437. <i>Date of Electronic Publication: </i>2024 Oct 22 (<i>Print Publication: </i>2024).
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        Value: 10.1155/2024/6248437
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              Text: 2024 Oct 22
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