D A Hughes
Affiliation: University College London
- How should stainable iron in bone marrow films be assessed?D A Hughes
Department of Academic Haematology, St Mary s Hospital, Praed Street, London W2 1NY, UK
J Clin Pathol 57:1038-40. 2004..To identify how many particles should be examined to enable a confident assessment of the presence or absence of iron stores and the quantity of iron in a bone marrow aspirate to be made...
- Vascular complications of Fabry disease: enzyme replacement and other therapiesD A Hughes
Department of Academic Haematology, Royal Free and University College Medical School, London, UK
Acta Paediatr Suppl 94:28-33; discussion 9-10. 2005..Preliminary evidence suggests that ERT may have beneficial effects on the vascular component of this multisystem disease...
- Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfaD A Hughes
Department of Academic Haematology, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
Heart 94:153-8. 2008..The present study was designed to assess the safety and efficacy of enzyme replacement therapy with agalsidase alfa on the cardiac manifestations of Anderson-Fabry disease...
- Are routine iron stains on bone marrow trephine biopsy specimens necessary?S E Stuart-Smith
Department of Haematology, St Mary s Hospital, Praed Street, London W2 1NY, UK
J Clin Pathol 58:269-72. 2005..To determine the role of Perls' staining in bone marrow trephine biopsy sections...
- Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher diseaseM Reed
Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital and University College, London, UK
Blood Cells Mol Dis 51:185-94. 2013..Elucidation of the underlying mechanisms of these changes will suggest rational therapies for the most disabling aspect of this condition. ..
- Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologistsA S Thomas
Lysosomal Storage Disorders Unit, Department of Academic Haematology, Royal Free Hospital and University College Medical School, London, UK
Blood Cells Mol Dis 50:212-7. 2013....
- Extracellular matrix turnover and disease severity in Anderson-Fabry diseaseJ S Shah
The Heart Hospital, UCL, London, UK
J Inherit Metab Dis 30:88-95. 2007..Patients with AFD develop progressive left ventricular (LV) remodelling and heart failure. We hypothesized that altered extracellular matrix (ECM) turnover contributes to the pathophysiology of cardiac disease in AFD...
- Depression in adults with Fabry disease: a common and under-diagnosed problemA L Cole
Charles Dent Metabolic Unit, Box 92, The National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N3BG, UK
J Inherit Metab Dis 30:943-51. 2007..Depression in adults with AFD has been reported, but no large study has been done. We have examined the adult Fabry population in the United Kingdom to describe the prevalence, associated factors and frequency of diagnosis of depression...
- Long-term outcomes of liver transplantation in type 1 Gaucher diseaseR M Ayto
Department of Haematology, University College London Medical School, London, UK
Am J Transplant 10:1934-9. 2010..All four patients have had excellent outcomes from liver transplantation for up to 10 years postprocedure with no evidence of Gaucher-related pathology in the graft...
- Multiple myeloma: causes and consequences of delay in diagnosisC C Kariyawasan
Department of Academic Haematology, Royal Free Hospital and University College Medical School, London NW3 2QG, UK
QJM 100:635-40. 2007..Myeloma is a serious and usually fatal haematological malignancy with reported mortality of 10-20% within the first 2 months of presentation. Symptoms are non-specific, and patients thus present to a range of medical practitioners...
- Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustatD A Hughes
Royal Free and University College Medical School, Rowland Hill Street, London, UK
Parkinsonism Relat Disord 13:365-8. 2007..Oral miglustat should be considered for the treatment of patients with type I GD and concurrent movement disorders who are unsuitable for ERT...
- Age adjusting severity scores for Anderson-Fabry diseaseD A Hughes
Lysosomal Storage Disorders Unit, Royal Free Hospital, London, UK
Mol Genet Metab 101:219-27. 2010..This validated age and gender adjusted scoring system allows the comparison of disease severity in different subgroups such as genotypes without age or sex as confounding factors...
- Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustatP Mikosch
Department of Nuclear Medicine and Endocrinology, PET Center, State Hospital Klagenfurt, St Veiterstr 47, 9020, Klagenfurt, Austria
Calcif Tissue Int 83:43-54. 2008..From a clinical and metabolic point of view, most skeletal manifestations and bone-associated laboratory parameters remain stable after switch from ERT to SRT...
- Bone- and bone marrow scintigraphy in Gaucher disease type 1P Mikosch
Department of Niclear Medicine and Endocrinology, State Hospital Klagenfurt, Austria
Nuklearmedizin 47:N39-43. 2008
- Fabry disease and the skin: data from FOS, the Fabry outcome surveyC H Orteu
Department of Dermatology, Royal Free Hospital, London NW3 2QG, UK
Br J Dermatol 157:331-7. 2007..Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body...
- Natural history of Fabry disease in females in the Fabry Outcome SurveyP B Deegan
Department of Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
J Med Genet 43:347-52. 2006..Although the severity of clinical features in male patients is well described, only recently have studies reported the high prevalence of disabling clinical features in heterozygous females...
- Monocyte and neutrophil adhesion molecule expression during acute hyperglycemia and after antioxidant treatment in type 2 diabetes and control patientsM J Sampson
Bertram Diabetes Research Unit, Department of Diabetes and Endocrinology, Norfolk and Norwich University Hospital NHS Trust, Colney, Norwich, UK
Arterioscler Thromb Vasc Biol 22:1187-93. 2002....
- Low-dose supplementation with lycopene or beta-carotene does not enhance cell-mediated immunity in healthy free-living elderly humansB M Corridan
Nutritional Sciences, Department of Food Science and Technology, University College, Cork, Ireland
Eur J Clin Nutr 55:627-35. 2001....