Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.
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| Title: | Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease. |
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| Authors: | Desai AK; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Rodriguez-Rassi E; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Parikh S; Aflac Cancer and Blood Disorders Center, Emory University School of Medicine, Atlanta, GA., Russo RS; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA., Kronn D; Advanced Medical Genetics, Maria Fareri Children's Hospital at WMC Health, Hawthorne, NY.; Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY., Hamm JA; East Tennessee Children's Hospital, Knoxville, TN., Chang IJ; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA., Ortiz D; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA., McPheron M; Indiana University School of Medicine, Indianapolis, IN., Lydigsen H; University of Tennessee Health Science Center, Memphis, TN., DeArmey S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Young SP; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. |
| Source: | Genetics in medicine open [Genet Med Open] 2025 Dec 04; Vol. 4, pp. 103478. Date of Electronic Publication: 2025 Dec 04 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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