3,828 results on '"Niemann-Pick Diseases"'
Search Results
2. PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" (PREDIGA-2)
3. Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
4. Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
5. A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
6. Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
7. Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
8. Longitudinal Study of Neurodegenerative Disorders
9. Early Check: Expanded Screening in Newborns
10. Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
11. Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease (RAINBOW)
12. Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
13. Niemann-Pick Type C Treatment With Adrabetadex for Symptoms of Brain and Nervous System
14. A Non-Interventional National Study in Pediatric Patients With Unexplained Enlarged Spleen (OPPUS)
15. Advances in research on potential therapeutic approaches for Niemann-Pick C1 disease.
16. Connexin43 promotes exocytosis of damaged lysosomes through actin remodelling.
17. Recent and anticipated novel drug approvals (Q2 2024 through Q1 2025).
18. Acid sphingomyelinase deficiency in France: a retrospective survival study.
19. A Potential Role for the Amyloid Precursor Protein in the Regulation of Interferon Signaling, Cholesterol Homeostasis, and Tau Phosphorylation in Niemann–Pick Disease Type C.
20. Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).
21. Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments.
22. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant.
23. Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
24. Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1
25. Phase 3 Study to Evaluate Intravenous Trappsol(R) Cyclo(TM) in Pediatric and Adult Patients With Niemann-Pick Disease Type C1 (TransportNPC)
26. Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency (ASCEND)
27. N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
28. Early Access Program With Arimoclomol in US Patients With NPC
29. The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment.
30. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
31. Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.
32. Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches.
33. Video-Oculography Assessment in Neurodegenerative Ataxias and Niemann Pick Type C.
34. Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.
35. Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia.
36. Eponyms that honor Jewish dermatologists: A celebration and a remembrance, Part three: Jewish physicians who practiced during the Holocaust and in its aftermath.
37. Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
38. A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany.
39. UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells (DUOC-01)
40. A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency
41. A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
42. Data Analysis of Adult and Pediatric Participants With Acid Sphingomyelinase Deficiency (ASMD) on Early Access to Olipudase Alfa in France (OPERA)
43. Adrabetadex to Treat Niemann-Pick Type C1 (NPC1) Disease
44. A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)
45. Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency (MONACO)
46. ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (ScreenPlus)
47. Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
48. Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
49. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review.
50. Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
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