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M T Vanier

Showing results (81-90 of 156) with videos related to

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The Journal of Pediatrics|July 22, 1998
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up periodP Landrieu, S Blanche, M T Vanier, et al.
Pediatrie|March 1, 1979
[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases]P Guibaud, M T Vanier, G Malpuech, et al.
Biochimica Et Biophysica Acta|April 2, 1990
Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C diseaseC Rodriguez-Lafrasse, R Rousson, J Bonnet, et al.
Archives Francaises De Pediatrie|May 1, 1990
[A fatal respiratory form of type C Niemann-Pick disease]I Pin, S Pradines, O Pincemaille, et al.
Human Genetics|August 2, 2001
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsI Ribeiro, A Marcão, O Amaral, et al.
Journal of Inherited Metabolic Disease|January 1, 1986
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelinM Elleder, J Nevoral, V Spicáková, et al.
Brain Research|December 7, 1981
Lipid metabolism and oxygen consumption in a hereditary demyelinating neuropathy, the trembler mouse: an in vitro studyJ M Matthieu, M Markert, M T Vanier, et al.
Journal of Inherited Metabolic Disease|July 10, 1999
Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber diseaseJ Tohyama, Y Oya, T Ezoe, et al.
Archives of Neurology|December 24, 1997
Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic studyA Lossos, I Schlesinger, E Okon, et al.
Molecular Genetics and Metabolism|July 20, 2001
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease)P Luzi, M A Rafi, M Zaka, et al.
Pageof 16

Showing results (81-90 of 156) with videos related to

Sort By:
Pageof 16
The Journal of Pediatrics|July 22, 1998
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up periodP Landrieu, S Blanche, M T Vanier, et al.
Pediatrie|March 1, 1979
[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases]P Guibaud, M T Vanier, G Malpuech, et al.
Biochimica Et Biophysica Acta|April 2, 1990
Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C diseaseC Rodriguez-Lafrasse, R Rousson, J Bonnet, et al.
Archives Francaises De Pediatrie|May 1, 1990
[A fatal respiratory form of type C Niemann-Pick disease]I Pin, S Pradines, O Pincemaille, et al.
Human Genetics|August 2, 2001
Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterationsI Ribeiro, A Marcão, O Amaral, et al.
Journal of Inherited Metabolic Disease|January 1, 1986
A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelinM Elleder, J Nevoral, V Spicáková, et al.
Brain Research|December 7, 1981
Lipid metabolism and oxygen consumption in a hereditary demyelinating neuropathy, the trembler mouse: an in vitro studyJ M Matthieu, M Markert, M T Vanier, et al.
Journal of Inherited Metabolic Disease|July 10, 1999
Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber diseaseJ Tohyama, Y Oya, T Ezoe, et al.
Archives of Neurology|December 24, 1997
Adult-onset Niemann-Pick type C disease. Clinical, biochemical, and genetic studyA Lossos, I Schlesinger, E Okon, et al.
Molecular Genetics and Metabolism|July 20, 2001
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease)P Luzi, M A Rafi, M Zaka, et al.
Pageof 16