Hughes D - Search Results

1

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: hughes d. 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.

2

Vascular complications of Fabry disease: enzyme replacement and other therapies.

Hughes DA, Mehta AB. Hughes DA, et al. Acta Paediatr Suppl. 2005 Mar;94(447):28-33; discussion 9-10. doi: 10.1111/j.1651-2227.2005.tb02107.x. Acta Paediatr Suppl. 2005. PMID: 15895709 Review.

3

Natural history of Fabry disease in females in the Fabry Outcome Survey.

Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Deegan PB, et al. Among authors: hughes da. J Med Genet. 2006 Apr;43(4):347-52. doi: 10.1136/jmg.2005.036327. Epub 2005 Oct 14. J Med Genet. 2006. PMID: 16227523 Free PMC article.

4

Intravenous enzyme replacement therapy: better in home or hospital?

Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Milligan A, et al. Among authors: hughes d. Br J Nurs. 2006 Mar 23-Apr 12;15(6):330-3. doi: 10.12968/bjon.2006.15.6.20681. Br J Nurs. 2006. PMID: 16628169

5

Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat.

Hughes DA, Ginsberg L, Baker R, Goodwin S, Milligan A, Richfield L, Mehta AB. Hughes DA, et al. Parkinsonism Relat Disord. 2007 Aug;13(6):365-8. doi: 10.1016/j.parkreldis.2006.07.010. Epub 2006 Oct 16. Parkinsonism Relat Disord. 2007. PMID: 17049454

6

Extracellular matrix turnover and disease severity in Anderson-Fabry disease.

Shah JS, Hughes DA, Tayebjee MH, MacFadyen RJ, Mehta AB, Elliott PM. Shah JS, et al. Among authors: hughes da. J Inherit Metab Dis. 2007 Feb;30(1):88-95. doi: 10.1007/s10545-006-0360-6. Epub 2006 Dec 11. J Inherit Metab Dis. 2007. PMID: 17160618

7

Multiple myeloma: causes and consequences of delay in diagnosis.

Kariyawasan CC, Hughes DA, Jayatillake MM, Mehta AB. Kariyawasan CC, et al. Among authors: hughes da. QJM. 2007 Oct;100(10):635-40. doi: 10.1093/qjmed/hcm077. Epub 2007 Sep 10. QJM. 2007. PMID: 17846059

8

Depression in adults with Fabry disease: a common and under-diagnosed problem.

Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH. Cole AL, et al. Among authors: hughes da. J Inherit Metab Dis. 2007 Nov;30(6):943-51. doi: 10.1007/s10545-007-0708-6. Epub 2007 Nov 12. J Inherit Metab Dis. 2007. PMID: 17994284

9

Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat.

Mikosch P, Reed M, Baker R, Holloway B, Berger L, Mehta AB, Hughes DA. Mikosch P, et al. Among authors: hughes da. Calcif Tissue Int. 2008 Jul;83(1):43-54. doi: 10.1007/s00223-008-9143-4. Epub 2008 Jun 14. Calcif Tissue Int. 2008. PMID: 18553043

10

Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease? A review of the literature.

Mikosch P, Kohlfürst S, Gallowitsch HJ, Kresnik E, Lind P, Mehta AB, Hughes DA. Mikosch P, et al. Among authors: hughes da. Nuklearmedizin. 2008;47(6):239-47. Nuklearmedizin. 2008. PMID: 19057797 Review.

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