Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.
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| Title: | Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing. |
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| Authors: | Furuta Y; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Agrawal NS; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Grochowsky AR; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Tinker RJ; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Mobley BC; Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Jones KA; Department of Pathology, Division of Neuropathology, Duke University Medical Center, Durham, NC, USA., Cassini TA; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. |
| Source: | The Neurohospitalist [Neurohospitalist] 2025 Jun 05; Vol. 16 (1), pp. 61-65. Date of Electronic Publication: 2025 Jun 05 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: SAGE Publications Country of Publication: United States NLM ID: 101558199 Publication Model: eCollection Cited Medium: Print ISSN: 1941-8744 (Print) Linking ISSN: 19418744 NLM ISO Abbreviation: Neurohospitalist Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1941-8744 |
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| DOI: | 10.1177/19418744251348055 |
