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195 results

Course of disability and respiratory function in untreated late-onset Pompe disease.

Hagemans ML, Hop WJ, Van Doorn PA, Reuser AJ, Van der Ploeg AT

Neurology, 2006 Feb 28

NCBI: 16505317

Monitoring of pulmonary function in Pompe disease: a muscle disease with new therapeutic perspectives.

van der Ploeg AT

The European respiratory journal, 2005 Dec

NCBI: 16319324

The natural course of non-classic Pompe's disease; a review of 225 published cases.

Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ, van der Ploeg AT

Journal of neurology, 2005 Aug

NCBI: 16133732

Disease severity in children and adults with Pompe disease related to age and disease duration.

Hagemans ML, Winkel LP, Hop WC, Reuser AJ, Van Doorn PA, Van der Ploeg AT

Neurology, 2005 Jun 28

NCBI: 15985590

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.

Hagemans ML, Winkel LP, Van Doorn PA, Hop WJ, Loonen MC, Reuser AJ, Van der Ploeg AT

Brain : a journal of neurology, 2005 Mar

NCBI: 15659425

Late-onset Pompe disease primarily affects quality of life in physical health domains.

Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA, Van der Ploeg AT

Neurology, 2004 Nov 09

NCBI: 15534256

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

Kamphoven JH, de Ruiter MM, Winkel LP, Van den Hout HM, Bijman J, De Zeeuw CI, Hoeve HL, Van Zanten BA, Van der Ploeg AT, Reuser AJ

Neurobiology of disease, 2004 Jun

NCBI: 15207257

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency.

Ausems MG, ten Berg K, Kroos MA, van Diggelen OP, Wevers RA, Poorthuis BJ, Niezen-Koning KE, van der Ploeg AT, Beemer FA, Reuser AJ, Sandkuijl LA, Wokke JH

Community genetics, 1999

NCBI: 15181339

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.

Kroos MA, Kirschner J, Gellerich FN, Hermans MM, Van Der Ploeg AT, Reuser AJ, Korinthenberg R

Neuromuscular disorders : NMD, 2004 Jun

NCBI: 15145338

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT

Pediatrics, 2004 May

NCBI: 15121988

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT

Annals of neurology, 2004 Apr

NCBI: 15048888

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT, Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT

Pediatrics, 2003 Aug

NCBI: 12897283