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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.
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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PubType: Academic Journal
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Desai+AK%22">Desai AK</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Rodriguez-Rassi+E%22">Rodriguez-Rassi E</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Parikh+S%22">Parikh S</searchLink>; Aflac Cancer and Blood Disorders Center, Emory University School of Medicine, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Russo+RS%22">Russo RS</searchLink>; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA.<br /><searchLink fieldCode="AU" term="%22Kronn+D%22">Kronn D</searchLink>; Advanced Medical Genetics, Maria Fareri Children's Hospital at WMC Health, Hawthorne, NY.; Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY.<br /><searchLink fieldCode="AU" term="%22Hamm+JA%22">Hamm JA</searchLink>; East Tennessee Children's Hospital, Knoxville, TN.<br /><searchLink fieldCode="AU" term="%22Chang+IJ%22">Chang IJ</searchLink>; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.<br /><searchLink fieldCode="AU" term="%22Ortiz+D%22">Ortiz D</searchLink>; UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA.<br /><searchLink fieldCode="AU" term="%22McPheron+M%22">McPheron M</searchLink>; Indiana University School of Medicine, Indianapolis, IN.<br /><searchLink fieldCode="AU" term="%22Lydigsen+H%22">Lydigsen H</searchLink>; University of Tennessee Health Science Center, Memphis, TN.<br /><searchLink fieldCode="AU" term="%22DeArmey+S%22">DeArmey S</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Young+SP%22">Young SP</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.<br /><searchLink fieldCode="AU" term="%22Kishnani+PS%22">Kishnani PS</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
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  Data: <searchLink fieldCode="JN" term="%229918734281906676%22">Genetics in medicine open</searchLink> [Genet Med Open] 2025 Dec 04; Vol. 4, pp. 103478. <i>Date of Electronic Publication: </i>2025 Dec 04 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Inc%22">Elsevier Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9918734281906676 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2949-7744 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2229497744%22">29497744 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med Open <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41536902
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