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Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.
van den Dorpel, J J A; Poelman, E; Harlaar, L; van Kooten, H A; van der Giessen, L J; van Doorn, P A; van der Ploeg, A T; van den Hout, J M P; van der Beek, N A M E.
Afiliación
  • van den Dorpel JJA; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • Poelman E; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • Harlaar L; Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • van Kooten HA; Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • van der Giessen LJ; Center for Lysosomal and Metabolic Diseases, Department of Pediatric Physiotherapy, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • van Doorn PA; Center for Lysosomal and Metabolic Diseases, Department of Neurology, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • van den Hout JMP; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands.
  • van der Beek NAME; Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, P.O. Box 2060, Rotterdam, 3000, CB, The Netherlands. n.beek@erasmusmc.nl.
Orphanet J Rare Dis ; 15(1): 247, 2020 09 14.
Article en En | MEDLINE | ID: mdl-32928284
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Debilidad Muscular Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Debilidad Muscular Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Animals / Child / Female / Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos