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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
In 't Groen, Stijn L M; de Faria, Douglas O S; Iuliano, Alessandro; van den Hout, Johanna M P; Douben, Hannie; Dijkhuizen, Trijnie; Cassiman, David; Witters, Peter; Barba Romero, Miguel-Ángel; de Klein, Annelies; Somers-Bolman, Galhana M; Saris, Jasper J; Hoefsloot, Lies H; van der Ploeg, Ans T; Bergsma, Atze J; Pijnappel, W W M Pim.
Afiliação
  • In 't Groen SLM; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • de Faria DOS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Iuliano A; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • van den Hout JMP; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Douben H; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Dijkhuizen T; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Cassiman D; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Witters P; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Barba Romero MÁ; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • de Klein A; Department of Pediatrics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Somers-Bolman GM; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Saris JJ; Department of Clinical Genetics, Erasmus University Medical Center, 3015 GE Rotterdam, the Netherlands.
  • Hoefsloot LH; Department of Genetics, University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
  • van der Ploeg AT; Center for Metabolic Diseases, UZ and KU Leuven, 3000 Leuven, Belgium.
  • Bergsma AJ; Center for Metabolic Diseases, UZ and KU Leuven, 3000 Leuven, Belgium.
  • Pijnappel WWMP; Internal Medicine Department, Albacete University Hospital, 02006 Albacete, Spain.
Mol Ther Methods Clin Dev ; 17: 337-348, 2020 Jun 12.
Article em En | MEDLINE | ID: mdl-32071926
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Holanda