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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: lachmann rh. 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.
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW. Neumann J, et al. Among authors: lachmann rh. Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13. Brain. 2009. PMID: 19286695 Free PMC article.
Dietary modifications in patients receiving miglustat.
Champion H, Ramaswami U, Imrie J, Lachmann RH, Gallagher J, Cox TM, Wraith JE. Champion H, et al. Among authors: lachmann rh. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S379-83. doi: 10.1007/s10545-010-9193-4. Epub 2010 Sep 16. J Inherit Metab Dis. 2010. PMID: 20844964
Latency vs saccadic parameters in lysosomal trials.
Roos JC, Lachmann RH, Carpenter RH, Cox TM. Roos JC, et al. Among authors: lachmann rh. Ophthalmology. 2011 Apr;118(4):794-794.e1. doi: 10.1016/j.ophtha.2010.10.022. Ophthalmology. 2011. PMID: 21459233 No abstract available.
126 results