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R J Desnick

Showing results (11-20 of 382) with videos related to

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The Journal of Clinical Investigation|January 1, 1988
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activitiesE H Schuchman, R J Desnick
Advances in Nephrology From the Necker Hospital|November 6, 2001
Fabry disease: clinical features and recent advances in enzyme replacement therapyR J Desnick, M P Wasserstein
The Journal of Biological Chemistry|February 10, 1981
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other formsD F Bishop, R J Desnick
Birth Defects Original Article Series|January 1, 1983
Inherited metabolic diseases: advances in delineation, diagnosis, and treatmentL B Schweitzer, R J Desnick
Analytical Biochemistry|November 1, 1981
A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycansE H Schuchman, R J Desnick
Annual Review of Genomics and Human Genetics|September 14, 2012
Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challengesR J Desnick, E H Schuchman
Genomics|May 1, 1991
Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral geneA M Wang, R J Desnick
Human Mutation|January 1, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A geneC M Eng, R J Desnick
Advances in Genetics|October 13, 2001
Future perspectives for Tay-Sachs diseaseR J Desnick, M M Kaback
Human Mutation|January 1, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase geneK H Astrin, R J Desnick
Pageof 39

Showing results (11-20 of 382) with videos related to

Sort By:
Pageof 39
The Journal of Clinical Investigation|January 1, 1988
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activitiesE H Schuchman, R J Desnick
Advances in Nephrology From the Necker Hospital|November 6, 2001
Fabry disease: clinical features and recent advances in enzyme replacement therapyR J Desnick, M P Wasserstein
The Journal of Biological Chemistry|February 10, 1981
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other formsD F Bishop, R J Desnick
Birth Defects Original Article Series|January 1, 1983
Inherited metabolic diseases: advances in delineation, diagnosis, and treatmentL B Schweitzer, R J Desnick
Analytical Biochemistry|November 1, 1981
A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycansE H Schuchman, R J Desnick
Annual Review of Genomics and Human Genetics|September 14, 2012
Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challengesR J Desnick, E H Schuchman
Genomics|May 1, 1991
Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral geneA M Wang, R J Desnick
Human Mutation|January 1, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A geneC M Eng, R J Desnick
Advances in Genetics|October 13, 2001
Future perspectives for Tay-Sachs diseaseR J Desnick, M M Kaback
Human Mutation|January 1, 1994
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase geneK H Astrin, R J Desnick
Pageof 39