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. |
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| 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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| ISSN: | 1098-1004 |
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| DOI: | 10.1155/2024/6248437 |
