437 results on '"Vanier, Marie T."'
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2. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
3. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
4. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Sphingolipid Metabolism disorders Neuronal Ceroid Lipofuscinoses Neuronal Ceroid-Lipofuscinoses disorders
5. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
6. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
7. Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
8. Niemann-Pick Disease Type C
9. The Spectrum of Niemann-Pick Type C Disease in Greece
10. Genetic Evidence for Nonredundant Functional Cooperativity between NPC1 and NPC2 in Lipid Transport
11. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
12. Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
13. Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations
14. Identification of HE1 as the Second Gene of Niemann-Pick C Disease
15. Mouse Model of Sanfilippo Syndrome Type B Produced by Targeted Disruption of the Gene Encoding α -N-acetylglucosaminidase
16. Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood
17. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
18. Effects of miglustat therapy on neurological disorder and survival in early- infantile Niemann-Pick disease type C: a national French retrospective study
19. A Retrospective Multicentric Study of 34 Patients with Niemann–Pick Type C Disease and Early Liver Involvement in France
20. Acid sphingomyelinase deficiency: Epidemiologic and genetic aspects of a French cohort 1974–2021
21. Overview of Niemann-Pick type C disease in France 1975–2020: Evolution in diagnostic strategy, molecular genetics profiles and phenotypic correlations
22. Consensus clinical management guidelines for Acid Sphingomyelinase Deficiency (Niemann-Pick disease types A, B and A/B)
23. Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses
24. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
25. Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect
26. Consensus clinical management guidelines for Niemann-Pick disease type C
27. Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat
28. Niemann‐Pick Disease Type C
29. Lysosomal Disorders
30. Complex lipid trafficking in Niemann-Pick disease type C
31. Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C
32. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease
33. Laboratory diagnosis of Niemann–Pick disease type C: The filipin staining test
34. Prevalence of Cancer in Acid Sphingomyelinase Deficiency
35. Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)
36. A Defect in Cholesterol Esterification in Niemann--Pick Disease (Type C) Patients
37. Type-C Niemann-Pick Disease: Low Density Lipoprotein Uptake is Associated with Premature Cholesterol Accumulation in the Golgi Complex and Excessive Cholesterol Storage in Lysosomes
38. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review
39. Cirrhosis and Liver Failure: Expanding Phenotype of Acid Sphingomyelinase-Deficient Niemann-Pick Disease in Adulthood
40. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann–Pick disease type A/B and C
41. Lysosomal diseases
42. Niemann–Pick diseases
43. Niemann-Pick Disease Type C
44. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations
45. Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C
46. A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
47. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
48. Lipid Changes in Niemann-Pick Disease Type C Brain: Personal Experience and Review of the Literature
49. Drastically Abnormal Gluco- and Galactosylceramide Composition Does Not Affect Ganglioside Metabolism in the Brain of Mice Deficient in Galactosylceramide Synthase
50. Sphingosylphosphorylcholine in Niemann-Pick Disease Brain: Accumulation in Type A But Not in Type B
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