Sharma R - Search Results

1

Enzyme replacement therapy for late-onset Pompe disease.

Dalmia S, Sharma R, Ramaswami U, Hughes D, Jahnke N, Cole D, Smith S, Remmington T. Dalmia S, et al. Among authors: sharma r. Cochrane Database Syst Rev. 2023 Dec 12;12(12):CD012993. doi: 10.1002/14651858.CD012993.pub2. Cochrane Database Syst Rev. 2023. PMID: 38084761 Review.

2

Efficacy and safety of N-acetyl-L-leucine in Niemann-Pick disease type C.

Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Bremova-Ertl T, et al. Among authors: sharma r. J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13. J Neurol. 2022. PMID: 34387740 Free PMC article. Clinical Trial.

3

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.

Donald A, Tan CY, Chakrapani A, Hughes DA, Sharma R, Cole D, Bardins S, Gorges M, Jones SA, Schneider E. Donald A, et al. Among authors: sharma r. Orphanet J Rare Dis. 2020 Dec 17;15(1):349. doi: 10.1186/s13023-020-01637-9. Orphanet J Rare Dis. 2020. PMID: 33334373 Free PMC article.

4

Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.

D'Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O, Page K, Ramaswami U, Johannesdottir F, Cox TM, Deegan P, Poole KE; MRC Gaucherite Consortium; MRC Gaucherite Consortium Collaborators. D'Amore S, et al. Radiology. 2023 Apr;307(1):e212779. doi: 10.1148/radiol.212779. Epub 2022 Dec 20. Radiology. 2023. PMID: 36537898 Free PMC article. Clinical Trial.

5

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

Leija-Salazar M, Sedlazeck FJ, Toffoli M, Mullin S, Mokretar K, Athanasopoulou M, Donald A, Sharma R, Hughes D, Schapira AHV, Proukakis C. Leija-Salazar M, et al. Among authors: sharma r. Mol Genet Genomic Med. 2019 Mar;7(3):e564. doi: 10.1002/mgg3.564. Epub 2019 Jan 13. Mol Genet Genomic Med. 2019. PMID: 30637984 Free PMC article.

6

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.

Stepien KM, Hendriksz CJ, Roberts M, Sharma R. Stepien KM, et al. Among authors: sharma r. Mol Genet Metab. 2016 Apr;117(4):413-8. doi: 10.1016/j.ymgme.2016.01.013. Epub 2016 Feb 4. Mol Genet Metab. 2016. PMID: 26873529

7

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: sharma r. 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.

8

A 4-Year Observational Clinical Study of 24 Adult Pompe Disease Patients under Alglucosidase Alfa Enzyme Replacement Therapy.

Stepien KM, Whitby J, Roberts M, Sharma R. Stepien KM, et al. Among authors: sharma r. J Neuromuscul Dis. 2015;2(s1):S69. J Neuromuscul Dis. 2015. PMID: 27858656 No abstract available.

9

A Comparison of Gait Patterns between Late-Onset Pompe Disease and Age-Matched Healthy Individuals: Does Late-Onset Pompe Disease have a Typical Gait Pattern?

Silk E, Jones RK, Hendriksz C, Sharma R, Jovanovic A, Wilcox G, Baker RJ. Silk E, et al. Among authors: sharma r. J Neuromuscul Dis. 2015;2(s1):S31. J Neuromuscul Dis. 2015. PMID: 27858626 No abstract available.

10

Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program.

Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Harmatz PR, et al. Among authors: sharma r. J Inherit Metab Dis. 2019 May;42(3):519-526. doi: 10.1002/jimd.12079. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30834539

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