E H Schuchman - JoVE Visualize

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Gene Therapy|November 18, 2000

Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick diseaseS R Miranda, S Erlich, V L Friedrich, et al.

Human Mutation|March 10, 2001

Molecular analysis of acid ceramidase deficiency in patients with Farber diseaseJ Bär, T Linke, K Ferlinz, et al.

The Journal of Biological Chemistry|July 11, 1998

The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase geneS L Schissel, G A Keesler, E H Schuchman, et al.

Biochimica Et Biophysica Acta|July 17, 1999

Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cellsX He, S R Miranda, X Xiong, et al.

Journal of Inherited Metabolic Disease|February 11, 2005

Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'proof of principle' in acid sphingomyelinase-deficient miceA Butler, S C Henderson, R E Gordon, et al.

Blood|December 24, 1998

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer proceduresS Erlich, S R Miranda, J W Visser, et al.

Analytical Biochemistry|October 21, 1999

A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activityX He, C M Li, J H Park, et al.

The Journal of Clinical Investigation|February 1, 1982

Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit associationD T Vine, M M McGovern, E H Schuchman, et al.

Transplantation|May 16, 1998

Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient miceS R Miranda, S Erlich, V L Friedrich, et al.

Human Gene Therapy|December 1, 1992

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelinT Dinur, E H Schuchman, E Fibach, et al.

Pageof 8

Showing results (31-40 of 71) with videos related to

Sort By:

Pageof 8

Gene Therapy|November 18, 2000

Hematopoietic stem cell gene therapy leads to marked visceral organ improvements and a delayed onset of neurological abnormalities in the acid sphingomyelinase deficient mouse model of Niemann-Pick diseaseS R Miranda, S Erlich, V L Friedrich, et al.

Human Mutation|March 10, 2001

Molecular analysis of acid ceramidase deficiency in patients with Farber diseaseJ Bär, T Linke, K Ferlinz, et al.

The Journal of Biological Chemistry|July 11, 1998

The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase geneS L Schissel, G A Keesler, E H Schuchman, et al.

Biochimica Et Biophysica Acta|July 17, 1999

Characterization of human acid sphingomyelinase purified from the media of overexpressing Chinese hamster ovary cellsX He, S R Miranda, X Xiong, et al.

Journal of Inherited Metabolic Disease|February 11, 2005

Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'proof of principle' in acid sphingomyelinase-deficient miceA Butler, S C Henderson, R E Gordon, et al.

Blood|December 24, 1998

Fluorescence-based selection of gene-corrected hematopoietic stem and progenitor cells from acid sphingomyelinase-deficient mice: implications for Niemann-Pick disease gene therapy and the development of improved stem cell gene transfer proceduresS Erlich, S R Miranda, J W Visser, et al.

Analytical Biochemistry|October 21, 1999

A fluorescence-based high-performance liquid chromatographic assay to determine acid ceramidase activityX He, C M Li, J H Park, et al.

The Journal of Clinical Investigation|February 1, 1982

Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit associationD T Vine, M M McGovern, E H Schuchman, et al.

Transplantation|May 16, 1998

Biochemical, pathological, and clinical response to transplantation of normal bone marrow cells into acid sphingomyelinase-deficient miceS R Miranda, S Erlich, V L Friedrich, et al.

Human Gene Therapy|December 1, 1992

Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelinT Dinur, E H Schuchman, E Fibach, et al.

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