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M T Vanier

Showing results (121-130 of 156) with videos related to

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European Journal of Human Genetics : EJHG|January 1, 1993
Collaborative study of the molecular epidemiology of Tay-Sachs disease in EuropeS Akli, J Boue, K Sandhoff, et al.
American Journal of Human Genetics|October 16, 1999
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeG Millat, C Marçais, M A Rafi, et al.
The Journal of Biological Chemistry|December 15, 1986
Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblastsH S Kruth, M E Comly, J D Butler, et al.
The Journal of Biological Chemistry|August 5, 1992
Deficiencies in sex-regulated expression and levels of two hepatic sterol carrier proteins in a murine model of Niemann-Pick type C diseaseC F Roff, A Pastuszyn, J F Strauss, et al.
Biochimica Et Biophysica Acta|November 28, 1989
Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblastsE J Blanchette Mackie, N K Dwyer, M T Vanier, et al.
Biochimica Et Biophysica Acta|February 22, 1994
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterolP G Pentchev, R O Brady, E J Blanchette-Mackie, et al.
Journal of Medical Genetics|February 24, 2001
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblastsT Yamamoto, H Ninomiya, M Matsumoto, et al.
Journal of Inherited Metabolic Disease|May 7, 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach studyH Pavlů-Pereira, B Asfaw, H Poupctová, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
The place of fetal liver transplantation in the treatment of inborn errors of metabolismJ L Touraine, S Laplace, F Rezzoug, et al.
Developmental Neuroscience|January 1, 1991
Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transportC F Roff, E Goldin, M E Comly, et al.
Pageof 16

Showing results (121-130 of 156) with videos related to

Sort By:
Pageof 16
European Journal of Human Genetics : EJHG|January 1, 1993
Collaborative study of the molecular epidemiology of Tay-Sachs disease in EuropeS Akli, J Boue, K Sandhoff, et al.
American Journal of Human Genetics|October 16, 1999
Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotypeG Millat, C Marçais, M A Rafi, et al.
The Journal of Biological Chemistry|December 15, 1986
Type C Niemann-Pick disease. Abnormal metabolism of low density lipoprotein in homozygous and heterozygous fibroblastsH S Kruth, M E Comly, J D Butler, et al.
The Journal of Biological Chemistry|August 5, 1992
Deficiencies in sex-regulated expression and levels of two hepatic sterol carrier proteins in a murine model of Niemann-Pick type C diseaseC F Roff, A Pastuszyn, J F Strauss, et al.
Biochimica Et Biophysica Acta|November 28, 1989
Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblastsE J Blanchette Mackie, N K Dwyer, M T Vanier, et al.
Biochimica Et Biophysica Acta|February 22, 1994
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterolP G Pentchev, R O Brady, E J Blanchette-Mackie, et al.
Journal of Medical Genetics|February 24, 2001
Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblastsT Yamamoto, H Ninomiya, M Matsumoto, et al.
Journal of Inherited Metabolic Disease|May 7, 2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach studyH Pavlů-Pereira, B Asfaw, H Poupctová, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
The place of fetal liver transplantation in the treatment of inborn errors of metabolismJ L Touraine, S Laplace, F Rezzoug, et al.
Developmental Neuroscience|January 1, 1991
Type C Niemann-Pick disease: use of hydrophobic amines to study defective cholesterol transportC F Roff, E Goldin, M E Comly, et al.
Pageof 16