35 results on '"Geberhiwot, Tarekegn"'
Search Results
2. Longitudinal changes in transthoracic echocardiography and biochemical markers in Fabry disease
3. High sensitivity troponin T and I to evaluate Fabry disease cardiomyopathy
4. Retrospective assessment of family screening in Fabry disease
5. Barriers and facilitators to physical activity and exercise in late-onset Pompe disease (LOPD): A qualitative study exploring patients' perspectives and experiences
6. Potential increased risk of renal cell carcinoma in Fabry disease
7. Investigating the role of miglustat in the management of a patient with Tangier disease: An n-of-1 study with alternating periods of intervention and control
8. Defining the Cardiovascular Phenotype of Adults with Alström Syndrome
9. At home enzyme replacement therapy for patients with lysosomal disorders: A single-centre experience
10. Cipaglucosidase alfa and miglustat under the Early Access to Medicines Scheme (EAMS): A single centre experience
11. Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study
12. Phenom: a prospective clinical study on the clinical impact of phenylketonuria in adults (307–902)
13. Evaluation of algorithms to identify patients with Fabry disease using routinely collected hospital activity data
14. Very high bone mineral density in a monogenic form of obesity-associated insulin resistance
15. Proposed stages of cardiomyopathy in Fabry disease
16. Clinical utility of total concentration of globotriaosylsphingosine (Lyso-Gb) and its analogues in diagnosing Fabry disease
17. Long-term clinical outcomes of patients with Morquio syndrome type A treated with elosulfase alfa: Results from a managed access agreement in England
18. Audit on cardiovascular risk in Fabry disease
19. The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease
20. The natural progression of cardiac involvement in Fabry disease
21. Impact of two-year elosulfase alfa treatment on patient-reported outcomes in patients with Morquio syndrome type A: Results from an English managed access agreement
22. A multicentre study of cardiac device implantation, arrhythmic burden and risk factors in Fabry cardiomyopathy
23. Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5 years of treatment
24. Safety, efficacy, and immunogenicity of elosulfase alfa in patients with Morquio syndrome type A participating in 2 sequential open-label studies (MOR-002/MOR-100), representing 5 years of treatment
25. Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio syndrome type A: Results from the first year of a managed access agreement in England
26. The subclinical phenotype of cardiac Fabry disease
27. Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in England
28. Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: An open-label, phase 2 study
29. POM-001 phase 1/2 study of BMN 701, GILT-tagged recombinant human (rh) GAA in late-onset Pompe disease: Initial experience in 22 patients
30. Ethiopian Mitochondrial DNA Heritage: Tracking Gene Flow Across and Around the Gate of Tears
31. Origin and Diffusion of mtDNA Haplogroup X
32. Chain specificity assignment of monoclonal antibodies to human laminins by using recombinant laminin β1 and γ1 chains
33. Erythromegakaryocytic Cells Synthesize Laminin-8 (α4β1γ1)
34. Blood Platelets Contain and Secrete Laminin-8 (α4β1γ1) and Adhere to Laminin-8 via α6β1 Integrin
35. Ectoprotein kinase activities on non-differentiated and differentiated U-937 cells
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