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M T Vanier

Showing results (61-70 of 156) with videos related to

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Biochimica Et Biophysica Acta|May 25, 1994
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disordersC Rodriguez-Lafrasse, R Rousson, P G Pentchev, et al.
Archives Francaises De Pediatrie|March 1, 1992
[Galactosialidosis with Kayser-Fleischer's ring]M A Mongalgi, N H Toumi, M Cheour, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 1, 1991
Fatal liver failure in two children with Niemann-Pick disease type BP Labrune, P Bedossa, P Huguet, et al.
Biochimica Et Biophysica Acta|December 8, 1972
Sphinolipids of human skeletal muscleL Svennerholm, A Bruce, J E Månsson, et al.
Clinical Genetics|May 2, 2007
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2L Verot, K Chikh, E Freydière, et al.
American Journal of Human Genetics|January 1, 1996
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophyM Henseler, A Klein, M Reber, et al.
Human Molecular Genetics|May 24, 2001
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouseJ Matsuda, M T Vanier, Y Saito, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|March 3, 2004
Are animal models useful for understanding the pathophysiology of lysosomal storage disease?K Suzuki, T Ezoe, J Tohyama, et al.
American Journal of Human Genetics|June 1, 1995
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick diseaseK Ferlinz, R Hurwitz, M Weiler, et al.
Medical Biology|August 1, 1974
Chemical and immunological characterisation of the major glucosamine-containing ganglioside of human tissuesJ E Månsson, J Holmgren, Y T Li, et al.
Pageof 16

Showing results (61-70 of 156) with videos related to

Sort By:
Pageof 16
Biochimica Et Biophysica Acta|May 25, 1994
Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disordersC Rodriguez-Lafrasse, R Rousson, P G Pentchev, et al.
Archives Francaises De Pediatrie|March 1, 1992
[Galactosialidosis with Kayser-Fleischer's ring]M A Mongalgi, N H Toumi, M Cheour, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 1, 1991
Fatal liver failure in two children with Niemann-Pick disease type BP Labrune, P Bedossa, P Huguet, et al.
Biochimica Et Biophysica Acta|December 8, 1972
Sphinolipids of human skeletal muscleL Svennerholm, A Bruce, J E Månsson, et al.
Clinical Genetics|May 2, 2007
Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2L Verot, K Chikh, E Freydière, et al.
American Journal of Human Genetics|January 1, 1996
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophyM Henseler, A Klein, M Reber, et al.
Human Molecular Genetics|May 24, 2001
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouseJ Matsuda, M T Vanier, Y Saito, et al.
Acta Paediatrica (Oslo, Norway : 1992). Supplement|March 3, 2004
Are animal models useful for understanding the pathophysiology of lysosomal storage disease?K Suzuki, T Ezoe, J Tohyama, et al.
American Journal of Human Genetics|June 1, 1995
Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick diseaseK Ferlinz, R Hurwitz, M Weiler, et al.
Medical Biology|August 1, 1974
Chemical and immunological characterisation of the major glucosamine-containing ganglioside of human tissuesJ E Månsson, J Holmgren, Y T Li, et al.
Pageof 16