The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia

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作者
Andrew Mallett
Phoebe Kearey
Anne Cameron
Helen Healy
Charles Denaro
Mark Thomas
Vincent W. Lee
Samantha Stark
Maria Fuller
Wendy E. Hoy
机构
[1] Royal Brisbane and Women’s Hospital,Kidney Health Service and Conjoint Renal Research Laboratory
[2] The University of Queensland,Institute for Molecular Bioscience
[3] The University of Queensland,Faculty of Medicine
[4] Australian Genomic Health Alliance,The KidGen Collaborative
[5] The University of Queensland,CKD.QLD and NHMRC CKD.CRE
[6] Royal Brisbane and Women’s Hospital,Department of Renal Medicine
[7] Royal Brisbane and Women’s Hospital,Department of Internal Medicine and Aged Care
[8] Royal Perth Hospital,Department of Nephrology
[9] Westmead Hospital,Department of Renal Medicine
[10] University of Sydney,Sydney Medical School, Faculty of Medicine and Health
[11] Genetics and Molecular Pathology Laboratory (SA Pathology),undefined
来源
BMC Nephrology | / 21卷
关键词
Fabry disease; Lysosomal storage disorder; Alpha-galactosidase; Genetic testing;
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[1]  
Germain DP(2010)Fabry disease Orphanet J Rare Dis 5 30-775
[2]  
Ortiz A(2010)End-stage renal disease in patients with Fabry disease: natural history data from the Fabry registry Nephrol Dial Transplant 25 769-1607
[3]  
Cianciaruso B(2008)Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy Nephrol Dial Transplant 23 1600-796
[4]  
Cizmarik M(2009)Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry Genet Med 11 790-552
[5]  
Germain DP(2009)Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry outcome survey J Med Genet 46 548-149
[6]  
Mignani R(2015)Quality of life in patients with Fabry disease: a systematic review of the literature Orphanet J Rare Dis 10 77-1399
[7]  
Oliveira JP(2018)Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study J Inherit Metab Dis 41 141-181
[8]  
Villalobos J(1989)Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene J Clin Invest 83 1390-775
[9]  
Vujkovac B(1970)Genetic inactivation of the α-Galactosidase locus in carriers of Fabry's disease Science 170 180-244
[10]  
Waldek S(2001)Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females J Med Genet 38 769-40