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Neuromuscular Disorders : NMD|July 17, 1999
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotypeH R Scholte, R N Van Coster, P C de Jonge, et al.Human Mutation|January 1, 1997
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic valueR G Boot, C E Hollak, M Verhoek, et al.Molecular Genetics and Metabolism|November 21, 2007
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The NetherlandsG J G Ruijter, M J Valstar, J M van de Kamp, et al.Biochimica Et Biophysica Acta|May 18, 2010
Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry diseaseS M Rombach, N Dekker, M G Bouwman, et al.Community Genetics|June 8, 2004
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequencyM G Ausems, K ten Berg, M A Kroos, et al.American Journal of Human Genetics|February 11, 1999
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiencyB S Andresen, S Olpin, B J Poorthuis, et al.Pageof 6