Showing results (1-10 of 71) with videos related to
Sort By:
Pageof 8
Chemistry and Physics of Lipids|September 23, 2000
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseasesE H SchuchmanInternational Journal of Clinical Pharmacology and Therapeutics|December 31, 2009
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick diseaseE H SchuchmanJournal of Inherited Metabolic Disease|July 17, 2007
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick diseaseE H SchuchmanBiochimica Et Biophysica Acta|April 24, 1995
A novel polymorphism in the human acid sphingomyelinase gene due to size variation of the signal peptide regionQ Wan, E H SchuchmanThe 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 DesnickGenetic Testing|January 1, 1997
Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testingE H Schuchman, S R MirandaAnnual 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 SchuchmanBiochimica Et Biophysica Acta|December 12, 1995
N-acetylgalactosamine-4-sulfatase: identification of four new mutations within the conserved sulfatase region causing mucopolysaccharidosis type VIC M Simonaro, E H SchuchmanCytokine|October 15, 1998
Acid sphingomyelinase-derived ceramide is not required for inflammatory cytokine signalling in murine macrophagesC L Manthey, E H SchuchmanActa Paediatrica Japonica : Overseas Edition|August 8, 1998
Gene therapy for genetic diseasesR J Desnick, E H SchuchmanPageof 8