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Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte, Manuel A; Filipp, Stephanie L; Zaidi, Zara; Gurka, Matthew J; Byrne, Barry J; Kang, Peter B.
Afiliación
  • Viamonte MA; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.
  • Filipp SL; Department of Pediatrics, UCLA Health / Mattel Children's Hospital, Los Angeles, CA, USA.
  • Zaidi Z; Department of Health Outcomes and Biomedical Informatics, University of Florida College of Medicine, Gainesville, FL, USA.
  • Gurka MJ; Powell Gene Therapy Center and Child Health Research Institute, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, USA.
  • Byrne BJ; Nicklaus Children's Hospital, Miami, FL, USA.
  • Kang PB; Department of Health Outcomes and Biomedical Informatics, University of Florida College of Medicine, Gainesville, FL, USA.
J Hum Genet ; 66(11): 1089-1099, 2021 Nov.
Article en En | MEDLINE | ID: mdl-33972680
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Tamizaje Neonatal / Predisposición Genética a la Enfermedad / Alfa-Glucosidasas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Newborn Idioma: En Año: 2021 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Tamizaje Neonatal / Predisposición Genética a la Enfermedad / Alfa-Glucosidasas Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Newborn Idioma: En Año: 2021 Tipo del documento: Article