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Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.
Kronn, David F; Day-Salvatore, Debra; Hwu, Wuh-Liang; Jones, Simon A; Nakamura, Kimitoshi; Okuyama, Torayuki; Swoboda, Kathryn J; Kishnani, Priya S.
Afiliación
  • Kronn DF; Department of Pathology and Pediatrics, New York Medical College, Valhalla, New York.
  • Day-Salvatore D; Saint Peter's University Hospital, New Brunswick, New Jersey.
  • Hwu WL; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
  • Jones SA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.
  • Nakamura K; Department of Pediatrics, Kumamoto University, Kumamoto, Japan.
  • Okuyama T; Department of Clinical Laboratory Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Swoboda KJ; Center for Human Genetics Research, Massachusetts General Hospital, Boston, Massachusetts; and.
  • Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina priya.kishnani@duke.edu.
Pediatrics ; 140(Suppl 1): S24-S45, 2017 Jul.
Article en En | MEDLINE | ID: mdl-29162675
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Tamizaje Neonatal / Terapia de Reemplazo Enzimático Tipo de estudio: Guideline / Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: Pediatrics Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Tamizaje Neonatal / Terapia de Reemplazo Enzimático Tipo de estudio: Guideline / Prognostic_studies Límite: Humans / Newborn Idioma: En Revista: Pediatrics Año: 2017 Tipo del documento: Article