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Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
Canibano-Fraile, Rodrigo; Harlaar, Laurike; Dos Santos, Carlos A; Hoogeveen-Westerveld, Marianne; Demmers, Jeroen A A; Snijders, Tim; Lijnzaad, Philip; Verdijk, Robert M; van der Beek, Nadine A M E; van Doorn, Pieter A; van der Ploeg, Ans T; Brusse, Esther; Pijnappel, W W M Pim; Schaaf, Gerben J.
Afiliación
  • Canibano-Fraile R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Harlaar L; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Dos Santos CA; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Hoogeveen-Westerveld M; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Demmers JAA; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Snijders T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Lijnzaad P; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Verdijk RM; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van der Beek NAME; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van Doorn PA; Erasmus Center for Biomics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • van der Ploeg AT; Department of Human Biology, NUTRIM School of Nutrition and Translational Research in Metabolism, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Brusse E; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
  • Pijnappel WWMP; Department of Pathology, Section Neuropathology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Schaaf GJ; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
J Inherit Metab Dis ; 46(1): 101-115, 2023 01.
Article en En | MEDLINE | ID: mdl-36111639

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II Límite: Animals Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II Límite: Animals Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos