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Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
Lee, Ni-Chung; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; Hwu, Wuh-Liang; Chien, Yin-Hsiu.
Afiliação
  • Lee NC; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
  • Chang KL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • In 't Groen SLM; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
  • de Faria DOS; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
  • Huang HJ; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
  • Pijnappel WWMP; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
  • Hwu WL; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan.
  • Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University College of Medicine, Taipei, Taiwan. Electronic address: chienyh@ntu.edu.tw.
J Pediatr ; 244: 139-147.e2, 2022 05.
Article em En | MEDLINE | ID: mdl-34995642

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Taiwan

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Taiwan
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