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A genetic modifier of symptom onset in Pompe disease.
Bergsma, Atze J; In 't Groen, Stijn L M; van den Dorpel, Jan J A; van den Hout, Hannerieke J M P; van der Beek, Nadine A M E; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T; Pijnappel, W W M Pim.
Afiliação
  • Bergsma AJ; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands.
  • In 't Groen SLM; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands.
  • van den Dorpel JJA; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands.
  • van den Hout HJMP; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands.
  • van der Beek NAME; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands.
  • Schoser B; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.
  • Toscano A; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Musumeci O; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
  • Bembi B; Academic Hospital "Santa Maria della Misericordia", Udine, Italy.
  • Dardis A; Academic Hospital "Santa Maria della Misericordia", Udine, Italy.
  • Morrone A; Neurofarba, University of Florence, Meyer Children's Hospital, Florence, Italy.
  • Tummolo A; Giovanni XXIII Children's Hospital, Bari, Italy.
  • Pasquini E; Meyer Children's Hospital, Florence, Italy.
  • van der Ploeg AT; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands.
  • Pijnappel WWMP; Department of Pediatrics, Erasmus University Medical Center, Rotterdam, Netherlands; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, Netherlands; Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, 3015 GE Rotterdam, Netherlands. Electronic
EBioMedicine ; 43: 553-561, 2019 May.
Article em En | MEDLINE | ID: mdl-30922962

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Depósito de Glicogênio Tipo II / Predisposição Genética para Doença / Estudos de Associação Genética / Genes Modificadores Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Doença de Depósito de Glicogênio Tipo II / Predisposição Genética para Doença / Estudos de Associação Genética / Genes Modificadores Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article