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Arnold J J Reuser

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American Journal of Medical Genetics. Part A|January 10, 2013
How to describe the clinical spectrum in Pompe disease?Deniz Güngör, Arnold J J Reuser
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principlesArnold J J Reuser, Maarten R Drost
Lancet (London, England)|October 22, 2008
Pompe's diseaseAns T van der Ploeg, Arnold J J Reuser
Plos One|March 5, 2013
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish LapphundsEija H Seppälä, Arnold J J Reuser, Hannes Lohi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 19, 2012
The genotype-phenotype correlation in Pompe diseaseMarian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, et al.
Molecular Genetics and Metabolism|November 11, 2006
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type IIToshika Okumiya, Marian A Kroos, Laura Van Vliet, et al.
Journal of Human Genetics|April 4, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe diseaseKanako Sugawara, Seiji Saito, Masakazu Sekijima, et al.
Expert Opinion on Pharmacotherapy|September 27, 2012
Treatment options for lysosomal storage disorders: developing insightsCarin M van Gelder, Audrey A M Vollebregt, Iris Plug, et al.
Molecular Genetics and Metabolism|April 14, 2009
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationShingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, et al.
Journal of Inherited Metabolic Disease|April 10, 2014
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe diseaseCarin M van Gelder, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Pageof 6

Showing results (1-10 of 54) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|January 10, 2013
How to describe the clinical spectrum in Pompe disease?Deniz Güngör, Arnold J J Reuser
Acta Paediatrica (Oslo, Norway : 1992). Supplement|May 25, 2006
Lysosomal dysfunction, cellular pathology and clinical symptoms: basic principlesArnold J J Reuser, Maarten R Drost
Lancet (London, England)|October 22, 2008
Pompe's diseaseAns T van der Ploeg, Arnold J J Reuser
Plos One|March 5, 2013
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish LapphundsEija H Seppälä, Arnold J J Reuser, Hannes Lohi
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 19, 2012
The genotype-phenotype correlation in Pompe diseaseMarian Kroos, Marianne Hoogeveen-Westerveld, Ans van der Ploeg, et al.
Molecular Genetics and Metabolism|November 11, 2006
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type IIToshika Okumiya, Marian A Kroos, Laura Van Vliet, et al.
Journal of Human Genetics|April 4, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe diseaseKanako Sugawara, Seiji Saito, Masakazu Sekijima, et al.
Expert Opinion on Pharmacotherapy|September 27, 2012
Treatment options for lysosomal storage disorders: developing insightsCarin M van Gelder, Audrey A M Vollebregt, Iris Plug, et al.
Molecular Genetics and Metabolism|April 14, 2009
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationShingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, et al.
Journal of Inherited Metabolic Disease|April 10, 2014
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe diseaseCarin M van Gelder, Marianne Hoogeveen-Westerveld, Marian A Kroos, et al.
Pageof 6