Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A)

[1]  W. Wilcox,et al.  Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life , 2007, Genetics in Medicine.

[2]  D. Levy,et al.  Echocardiographic criteria for left ventricular hypertrophy: the Framingham Heart Study. , 1987, The American journal of cardiology.

[3]  K. Tomita,et al.  Identification of Fabry's disease by the screening of alpha-galactosidase A activity in male and female hemodialysis patients. , 2005, Clinical nephrology.

[4]  R. Desnick,et al.  Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations , 2006, Human Genomics.

[5]  C. Eng,et al.  Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. , 2003, Kidney international.

[6]  Shing‐Jong Lin,et al.  High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population , 2009, Circulation. Cardiovascular genetics.

[7]  Ethan M Balk,et al.  K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification. , 2002, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[8]  J. Oliveira,et al.  Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. , 2008, Molecular genetics and metabolism.

[9]  M. Beer,et al.  Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment , 2009 .

[10]  R. Finkel,et al.  Agalsidase-Beta Therapy for Advanced Fabry Disease , 2007, Annals of Internal Medicine.

[11]  C. Orssaud,et al.  Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients , 2003, Ophthalmic genetics.

[12]  R. Kramar,et al.  J Am Soc Nephrol 15: 1323–1329, 2004 Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients , 2022 .

[13]  R. Hopkin,et al.  Fabry's disease , 2008, The Lancet.

[14]  K. Shu,et al.  Fabry's disease: clinical, pathologic and biochemical manifestations in two Chinese males. , 1994, Zhonghua yi xue za zhi = Chinese medical journal; Free China ed.

[15]  Y. Chien,et al.  Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later‐onset GLA mutation c.936+919G>A (IVS4+919G>A) , 2009, Human mutation.

[16]  K. Nicholls,et al.  Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre , 2005, Clinical & experimental ophthalmology.

[17]  R. Desnick,et al.  Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. , 1973, The Journal of laboratory and clinical medicine.

[18]  R. Desnick,et al.  Detection of α‐galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography , 2005 .

[19]  P. Bauer,et al.  Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study , 2005, The Lancet.

[20]  S. Tsuji.  [Alpha-galactosidase A deficiency--Fabry's disease]. , 1988, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.

[21]  A. Mehta,et al.  Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey , 2006, British Journal of Ophthalmology.

[22]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[23]  P. Meikle,et al.  Prevalence of lysosomal storage disorders. , 1999, JAMA.

[24]  R. Desnick,et al.  The ocular manifestations in Fabry's disease. , 1979, Archives of ophthalmology.

[25]  R. Schwartz.  An atypical variant of Fabry's disease in men with left ventricular hypertrophy , 1996 .

[26]  J. Yagüe,et al.  Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. , 2007, Journal of the American College of Cardiology.

[27]  R. Desnick,et al.  Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. , 2002, American journal of human genetics.

[28]  P. Elliott,et al.  Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy , 2002, Circulation.

[29]  J. E. Wraith,et al.  Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. , 2008, The Journal of pediatrics.

[30]  Kdoqi Disclaimer.  K/DOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification. , 2002, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[31]  D. Hughes,et al.  Natural history of Fabry disease in females in the Fabry Outcome Survey , 2005, Journal of Medical Genetics.