Affiliation: Royal Melbourne Hospital
- Diabetic nephropathy--how might we prevent, retard, or cope with it?Kathy Nicholls
Royal Melbourne Hospital, Parkville, Victoria
Aust Fam Physician 34:933-6. 2005..What can we do at the coal-face of medical practice to prevent nephropathy occurring at all, to identify it early if it develops, and to maximally limit its impact after its emergence?..
- Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment CentreThanh T Nguyen
Royal Melbourne Hospital, Melbourne, Victoria, Australia
Clin Experiment Ophthalmol 33:164-8. 2005..Fabry disease is a rare X-linked inborn error of glycosphingolipid metabolism. The aim of this study was to document the ophthalmological manifestations of patients attending the Royal Melbourne Hospital Fabry disease treatment centre...
- Targeted urine microscopy in Anderson-Fabry disease: a cheap, sensitive and specific diagnostic techniqueMathu Selvarajah
Department of Nephrology, The Royal Melbourne Hospital, Parkville, Melbourne, Australia
Nephrol Dial Transplant 26:3195-202. 2011..The diagnosis is often missed or delayed, and specific diagnostic tests (serum α-Gal A activity, genotyping or biopsy) are expensive and not widely available. We evaluated the diagnostic potential of urine microscopy in AFD...
- Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studiesDominique P Germain
Division of Medical Genetics, hôpital Raymond Poincaré AP HP, University of Versailles St Quentin en Yvelines UVSQ, Garches, 92380, France
Orphanet J Rare Dis 7:91. 2012..We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigational pharmacological chaperone given orally at 150 mg every-other-day...
- Severe infusion reactions to fabry enzyme replacement therapy: rechallenge after tracheostomyK Nicholls
Department of Nephrology, The Royal Melbourne Hospital, Parkville, Vic, 3050, Australia
JIMD Rep 5:109-12. 2012..Two years later, he has clinically improved on regular attenuated dose Agalsidase-beta, administered by slow infusion in a local hospital setting...
- Increased arterial stiffness is associated with high cardiovascular mortality in male Fabry patientsKathleen Nicholls
Department of Nephrology, Royal Melbourne Hospital, Grattan St, Parkville 3050, Vic, Australia
J Inherit Metab Dis 35:885-9. 2012..The significant effect of elevated arterial stiffness, especially in a small cohort, argues for its clinical utility in individual patient risk assessment and for further intervention studies focusing on therapeutic reduction...
- Prevention of progression of kidney disease: diabetic nephropathy - CARI guidelinesKathy Nicholls
Royal Melbourne Hospital, Parkville, Victoria, Australia
Aust Fam Physician 36:137-8. 2007..This article summarises CARI guidelines on the Prevention of progression of kidney disease: diabetic nephropathy...
- Cardiac involvement in Fabry's diseaseKathy Nicholls
Department of Nephrology, The Royal Melbourne Hospital, Royal Parade, Parkville, Melbourne, VIC 3050, Australia
Heart Lung Circ 14:S18-20. 2005..Disease frequency has probably been over-estimated at 1/40,000; so few centres have developed clinical experience of the disease, though the disease has been identified in all major racial groups...
- The CARI guidelines. Prevention of progression of kidney diseaseDavid Harris
Department of Renal Medicine, University of Sydney, Westmead Hospital, NSW
Nephrology (Carlton) 11:S2-197. 2006
- Renal dialysis abatement: lessons from a social studyMichael Ashby
Palliative Care Unit, Southern Health, Monash Medical Centre
Palliat Med 19:389-96. 2005..This study aimed to examine the reasons why some people chose to abate (i.e., stop or not start) renal dialysis, together with the personal and social impact of this decision on the person concerned, and/or their families...