82 results on '"Lysosomal Storage Diseases"'
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2. Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey
3. Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers
4. Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
5. A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem
6. What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview
7. A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
8. Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
9. Experimental Models of CNS Disorders Related to Lysosomal Storage Diseases
10. SCA34 caused by ELOVL4 L168F mutation is a lysosomal lipid storage disease sharing pathology features with neuronal ceroid lipofuscinosis and peroxisomal disorders
11. Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
12. Diagnostics of lysosomal storage diseases by mass spectrometry: a review
13. Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship
14. Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study
15. Cervical spondylolisthesis in mucopolysaccharidosis type II
16. Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies
17. Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B
18. Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies
19. New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy
20. Sphingolipid lysosomal storage diseases: from bench to bedside
21. Clinical approach to neurodegenerative disorders in childhood: an updated overview
22. Certainty Factor Triunity in Medical Diagnostics Tasks
23. Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases
24. Lysosomale Speicherkrankheiten im Erwachsenenalter
25. The rapidly evolving view of lysosomal storage diseases
26. Mice defective in interferon signaling help distinguish between primary and secondary pathological pathways in a mouse model of neuronal forms of Gaucher disease
27. A comprehensive review of Mongolian spots with an update on atypical presentations
28. Cystinose: Diagnostik, cystinentspeichernde Therapie und Transition
29. Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
30. N-glycan structures and downstream mannose-phosphorylation of plant recombinant human alpha-l-iduronidase: toward development of enzyme replacement therapy for mucopolysaccharidosis I
31. Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB
32. Newborn screening for Fabry disease in the north-west of Spain
33. Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I
34. Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis
35. Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family
36. Peripheral nerve ultrasound findings in mucolipidosis type 3
37. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers
38. The role of autophagy in neurodegenerative diseases
39. Entwicklung von Orphan Drugs: Am Beispiel Morbus Gaucher
40. NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
41. Lysosomale Speicherkrankheiten: Therapeutische Optionen
42. Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center
43. Secondary biochemical and morphological consequences in lysosomal storage diseases
44. Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases
45. A Rare Case of Mucopolysaccharidosis
46. Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors
47. Imaging findings of mucopolysaccharidoses: a pictorial review
48. Glycobiology: Progress, problems, and perspectives
49. Glycomics using mass spectrometry
50. Putative Biological Mechanisms of Efficiency of Substrate Reduction Therapies for Mucopolysaccharidoses
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