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222 results

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.

Okumiya T, Kroos MA, Vliet LV, Takeuchi H, Van der Ploeg AT, Reuser AJ

Molecular genetics and metabolism, 2007 Jan

NCBI: 17095274

Increased aortic stiffness in glycogenosis type 2 (Pompe's disease).

Nemes A, Soliman OI, Geleijnse ML, Anwar AM, van der Beek NA, van Doorn PA, Gavallér H, Csajbók E, ten Cate FJ

International journal of cardiology, 2007 Aug 09

NCBI: 17084921

Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.

van der Beek NA, Hagemans ML, van der Ploeg AT, Reuser AJ, van Doorn PA

Acta neurologica Belgica, 2006 Jun

NCBI: 16898258

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