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Page 1
Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease.
Augusto JB, Nordin S, Vijapurapu R, Baig S, Bulluck H, Castelletti S, Alfarih M, Knott K, Captur G, Kotecha T, Ramaswami U, Tchan M, Geberhiwot T, Fontana M, Steeds RP, Hughes D, Kozor R, Moon JC. Augusto JB, et al. Among authors: geberhiwot t. Circ Cardiovasc Imaging. 2020 Mar;13(3):e010171. doi: 10.1161/CIRCIMAGING.119.010171. Epub 2020 Mar 2. Circ Cardiovasc Imaging. 2020. PMID: 32114828 Free article.
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.
Koeberl D, Schulze A, Sondheimer N, Lipshutz GS, Geberhiwot T, Li L, Saini R, Luo J, Sikirica V, Jin L, Liang M, Leuchars M, Grunewald S. Koeberl D, et al. Among authors: geberhiwot t. Nature. 2024 Apr;628(8009):872-877. doi: 10.1038/s41586-024-07266-7. Epub 2024 Apr 3. Nature. 2024. PMID: 38570682 Clinical Trial.
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.
Cleary M, Davison J, Gould R, Geberhiwot T, Hughes D, Mercer J, Morrison A, Murphy E, Santra S, Jarrett J, Mukherjee S, Stepien KM. Cleary M, et al. Among authors: geberhiwot t. Orphanet J Rare Dis. 2021 Jan 21;16(1):38. doi: 10.1186/s13023-021-01675-x. Orphanet J Rare Dis. 2021. PMID: 33478511 Free PMC article.
In-depth phenotyping for clinical stratification of Gaucher disease.
D'Amore S, Page K, Donald A, Taiyari K, Tom B, Deegan P, Tan CY, Poole K, Jones SA, Mehta A, Hughes D, Sharma R, Lachmann RH, Chakrapani A, Geberhiwot T, Santra S, Banka S, Cox TM; MRC GAUCHERITE Consortium. D'Amore S, et al. Among authors: geberhiwot t. Orphanet J Rare Dis. 2021 Oct 14;16(1):431. doi: 10.1186/s13023-021-02034-6. Orphanet J Rare Dis. 2021. PMID: 34649574 Free PMC article.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Among authors: geberhiwot t. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
Defining the cardiovascular phenotype of adults with Alström syndrome.
Roy A, Patel L, Yuan M, O'Shea C, Alvior AMB, Charalambides M, Moxon D, Baig S, Bunting KV, Gehmlich K, Geberhiwot T, Steeds RP. Roy A, et al. Among authors: geberhiwot t. Int J Cardiol. 2024 May 26;409:132212. doi: 10.1016/j.ijcard.2024.132212. Online ahead of print. Int J Cardiol. 2024. PMID: 38806112 Free article.
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