D A Wenger|S Roth - JoVE Visualize

Showing results (61-70 of 1,151) with videos related to

Pageof 116

Sort By:

Human Genetics|March 1, 1996

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in IsraelM A Rafi, P Luzi, J Zlotogora, et al.

Histochemistry|January 1, 1986

Immunocytochemical localization of sphingolipid activator protein-1, the sulfatide/GM1 ganglioside activator, to lysosomes in human liver and colonT Tamaru, S Fujibayashi, W R Brown, et al.

Human Molecular Genetics|August 1, 1995

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe diseaseM A Rafi, P Luzi, Y Q Chen, et al.

Journal of the American Veterinary Medical Association|December 15, 1996

Fucosidosis in a family of American-bred English Springer SpanielsM O Smith, D A Wenger, S L Hill, et al.

American Journal of Human Genetics|May 1, 1981

Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liverD A Wenger, T Kudoh, M Sattler, et al.

American Journal of Human Genetics|June 1, 1992

Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiencyM A Rafi, S Amini, X L Zhang, et al.

Biochemical and Biophysical Research Communications|January 30, 1990

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophyM A Rafi, X L Zhang, G DeGala, et al.

Proceedings of the National Academy of Sciences of the United States of America|February 1, 1990

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiencyX L Zhang, M A Rafi, G DeGala, et al.

Annals of Neurology|August 1, 1984

A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degenerationS Ashwal, T V Thrasher, D R Rice, et al.

American Journal of Human Genetics|July 1, 1983

Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator proteinK Inui, E E Grebner, L G Jackson, et al.

Pageof 116

Showing results (61-70 of 1,151) with videos related to

Sort By:

Pageof 116

Human Genetics|March 1, 1996

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in IsraelM A Rafi, P Luzi, J Zlotogora, et al.

Histochemistry|January 1, 1986

Immunocytochemical localization of sphingolipid activator protein-1, the sulfatide/GM1 ganglioside activator, to lysosomes in human liver and colonT Tamaru, S Fujibayashi, W R Brown, et al.

Human Molecular Genetics|August 1, 1995

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe diseaseM A Rafi, P Luzi, Y Q Chen, et al.

Journal of the American Veterinary Medical Association|December 15, 1996

Fucosidosis in a family of American-bred English Springer SpanielsM O Smith, D A Wenger, S L Hill, et al.

American Journal of Human Genetics|May 1, 1981

Niemann-Pick disease type B: prenatal diagnosis and enzymatic and chemical studies on fetal brain and liverD A Wenger, T Kudoh, M Sattler, et al.

American Journal of Human Genetics|June 1, 1992

Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiencyM A Rafi, S Amini, X L Zhang, et al.

Biochemical and Biophysical Research Communications|January 30, 1990

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophyM A Rafi, X L Zhang, G DeGala, et al.

Proceedings of the National Academy of Sciences of the United States of America|February 1, 1990

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiencyX L Zhang, M A Rafi, G DeGala, et al.

Annals of Neurology|August 1, 1984

A new form of sea-blue histiocytosis associated with progressive anterior horn cell and axonal degenerationS Ashwal, T V Thrasher, D R Rice, et al.

American Journal of Human Genetics|July 1, 1983

Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator proteinK Inui, E E Grebner, L G Jackson, et al.

Pageof 116