A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

by Eija H Seppälä, Arnold J J Reuser, Hannes Lohi
Published 2013-01-01

Lentiviral Hematopoietic Stem Cell Gene Therapy Corrects Murine Pompe Disease

by Merel Stok, Helen de Boer, Marshall W. Huston, Edwin H. Jacobs, Onno Roovers, Trudi P. Visser, Holger Jahr, Dirk J. Duncker, Elza D. van Deel, Arnold J.J. Reuser, Niek P. van Til, Gerard Wagemaker
Published 2020-06-01

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

by Joep H.J Kamphoven, Martijn M de Ruiter, Leon P.F Winkel, Hannerieke M.P Van den Hout, Jan Bijman, Chris I De Zeeuw, Hans L Hoeve, Bert A Van Zanten, Ans T Van der Ploeg, Arnold J.J Reuser
Published 2004-06-01