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Journal of Inherited Metabolic Disease|April 24, 2016
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcomeChristiaan P Sentner, Irene J Hoogeveen, David A Weinstein, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2010
Glycogen storage disease type III diagnosis and management guidelinesPriya S Kishnani, Stephanie L Austin, Pamela Arn, et al.
Pediatrics|August 5, 2003
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literatureHannerieke M P van den Hout, Wim Hop, Otto P van Diggelen, et al.
Orphanet Journal of Rare Diseases|May 29, 2012
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort studyCatharina M L Touw, G Peter A Smit, Maaike de Vries, et al.
Journal of Inherited Metabolic Disease|July 23, 2014
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national surveyMarion M G Brands, Deniz Güngör, Johanna M P van den Hout, et al.
Annals of Neurology|March 30, 2004
Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-upLéon P F Winkel, Johanna M P Van den Hout, Joep H J Kamphoven, et al.
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