31 results on '"Wibbeler, Eva"'
Search Results
2. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
3. Visual perception and macular integrity in non-classical CLN2 disease
4. The Unified Batten Disease Rating Scale (UBDRS): Validation and reliability in an independent CLN3 disease sample
5. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity
6. Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
7. The relationship between the expanded neuronal ceroid lipofuscinosis 2 (CLN2) clinical rating scale for motor function (CLN2 CRS-MX) and GAITRite® parameters
8. Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease).
9. Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease)
10. Hamburg iNCL scale: A new tool for the quantitative description of disease progression in infantile CLN1 patients
11. Real-world clinical outcomes of intraventricular cerliponase alfa in CLN2 disease: 4.5-year update from an independent ongoing observational study
12. Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement Therapy (ERT) in CLN2 Disease” Based on 6 Years of Treatment Experience in 48 Patients
13. Hamburg iNCL Scale: A New Tool for the Quantitative Description of Disease Progression in Infantile CLN1 Patients
14. Analysis of Intracerebroventricular (ICV) Device Function and Integrity under Long-Term ICV-ERT in CLN2 Patients
15. Additional file 1 of Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)
16. Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement therapy (ERT) in CLN2 Disease” Based on 6 Years Treatment Experience in 48 Patients
17. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes : A Retrospective Single Centre Cohort Study
18. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
19. Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
20. An Ophthalmic Rating Scale to Assess Ocular Involvement in Juvenile CLN3 Disease
21. Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients
22. Development of the “Hamburg best practice guidelines for ICV-enzyme replacement therapy (ERT) in CLN2 disease” based on 5 years treatment experience in 48 patients
23. Experiences with Cannabidiol in Patients with NCL Disease
24. FV 1181. Intracerebroventricular Drug Delivery for CLN2 Disease—5 Years of Experience with ICV Enzyme Replacement Therapy in Hamburg
25. FV 1182. Ataxia and/or Language Regression at Early School Age—Think of Atypical CLN2 Disease
26. FV 1180. The Unified Batten Disease Rating Scale: An International Collaboration Testing Validation and Reliability in an Independent Cohort of CLN3-Patients
27. The unified Batten disease rating scale (UBDRS): Validation and reliability in an independent sample
28. Kongenitale myasthene Syndrome : genetische Hintergründe und klinische Aspekte im Langzeitverlauf
29. Cerliponase alfa for the treatment of atypical phenotypes of CLN2 disease: A retrospective case series.
30. Cardiac pathology in neuronal ceroid lipofuscinoses (NCL): More than a mere co-morbidity
31. Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.