19 results on '"Geberhiwot, Tarekegn"'
Search Results
2. Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
3. Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?
4. Publisher Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
5. Author Correction: Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia
6. Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study
7. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
8. Adipose tissue function and insulin sensitivity in syndromic obesity of Bardet-Biedl syndrome
9. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
10. Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy
11. Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England
12. Lung function and breathing patterns in hospitalised COVID-19 survivors: a review of post-COVID-19 Clinics
13. Consensus clinical management guidelines for Alström syndrome
14. Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis
15. Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease
16. A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaILRoAD) compared with current standard practice
17. Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial
18. Consensus clinical management guidelines for Niemann-Pick disease type C
19. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients
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