Renal Manifestations of Fabry Disease

[1]  J. Oliveira,et al.  Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). , 2010, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[2]  R. Hopkin,et al.  A case of minimal change disease in a Fabry patient , 2010, Pediatric Nephrology.

[3]  G. Remuzzi,et al.  Enzyme replacement therapy and Fabry nephropathy. , 2010, Clinical journal of the American Society of Nephrology : CJASN.

[4]  A. Anarat,et al.  Strict blood-pressure control and progression of renal failure in children. , 2009, The New England journal of medicine.

[5]  D. Warnock,et al.  Mineralocorticoid receptor blockers and chronic kidney disease. , 2009, Clinical journal of the American Society of Nephrology : CJASN.

[6]  L. Baudhuin,et al.  Novel human pathological mutations. Gene symbol: LDLR. Disease: hypercholesterolemia. , 2009, Human genetics.

[7]  B. Brenner,et al.  Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations. , 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[8]  C. Schmid,et al.  A new equation to estimate glomerular filtration rate. , 2009, Annals of internal medicine.

[9]  R. Schiffmann,et al.  Agalsidase alfa and kidney dysfunction in Fabry disease. , 2009, Journal of the American Society of Nephrology : JASN.

[10]  M. Ruiter,et al.  Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease; two autopsy reports. , 2009 .

[11]  Y. Chien,et al.  Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease. , 2009, Human genetics.

[12]  Susan L Furth,et al.  New equations to estimate GFR in children with CKD. , 2009, Journal of the American Society of Nephrology : JASN.

[13]  H. Holzer,et al.  Anderson–Fabry disease: a case‐finding study among male kidney transplant recipients in Austria , 2009, Transplant international : official journal of the European Society for Organ Transplantation.

[14]  S. Packman,et al.  Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy , 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[15]  P. Galle,et al.  Downregulation of alpha-galactosidase A upregulates CD77: functional impact for Fabry nephropathy. , 2009, Kidney international.

[16]  S. Takemoto,et al.  Kidney Transplant Outcomes in Patients With Fabry Disease , 2009, Transplantation.

[17]  D. Warnock,et al.  Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease , 2008, Biologics : targets & therapy.

[18]  R. Schiffmann,et al.  Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. , 2008, Molecular genetics and metabolism.

[19]  C. Eng,et al.  Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry , 2008, Pediatric Research.

[20]  J. Oliveira,et al.  Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy , 2008, Virchows Archiv.

[21]  Carlos Soares,et al.  Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson–Fabry disease , 2008, Virchows Archiv.

[22]  Y. Eto,et al.  Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes , 2008, Pediatric Nephrology.

[23]  G. Remuzzi,et al.  Role of remission clinics in the longitudinal treatment of CKD. , 2008, Journal of the American Society of Nephrology : JASN.

[24]  J. Oliveira,et al.  Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. , 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[25]  L. Bostad,et al.  Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. , 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[26]  B. Brenner,et al.  Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults , 2008, Nature Clinical Practice Nephrology.

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

[28]  C. Tei,et al.  Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. , 2008, Journal of cardiology.

[29]  Y. Eto,et al.  Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease , 2008, Journal of Inherited Metabolic Disease.

[30]  S. Hellweg,et al.  A wild zebra chase. , 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[31]  D. Warnock,et al.  Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. , 2007, Journal of the American Society of Nephrology : JASN.

[32]  R. Schiffmann,et al.  Cellular and tissue localization of globotriaosylceramide in Fabry disease , 2007, Virchows Archiv.

[33]  D. Kent,et al.  Progression risk, urinary protein excretion, and treatment effects of angiotensin-converting enzyme inhibitors in nondiabetic kidney disease. , 2007, Journal of the American Society of Nephrology : JASN.

[34]  R. Schiffmann,et al.  Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. , 2007, Journal of the American Society of Nephrology : JASN.

[35]  J. Charrow,et al.  Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. , 2007, Journal of the American Society of Nephrology : JASN.

[36]  D. de Zeeuw.  Albuminuria: a target for treatment of type 2 diabetic nephropathy. , 2007, Seminars in nephrology.

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

[38]  R. Schiffmann,et al.  Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease , 2006, Neurology.

[39]  C. Alpers,et al.  Iatrogenic phospholipidosis mimicking Fabry disease. , 2006, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[40]  D. Maixnerova,et al.  A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. , 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[41]  M. J. Moore,et al.  Fabry disease: a morphologic study of 11 cases , 2006, Modern Pathology.

[42]  R. Schiffmann,et al.  Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease , 2006, Pediatrics.

[43]  S. Brodie,et al.  Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement , 2006, Genetics in Medicine.

[44]  G. Houge,et al.  Prevalence of uncontrolled hypertension in patients with Fabry disease. , 2006, American journal of hypertension.

[45]  J. Kriegsmann,et al.  IgA nephropathy in two adolescent sisters heterozygous for Fabry disease , 2006, Pediatric Nephrology.

[46]  R. Desnick,et al.  High incidence of later-onset fabry disease revealed by newborn screening. , 2006, American journal of human genetics.

[47]  Tom Greene,et al.  Assessing kidney function--measured and estimated glomerular filtration rate. , 2006, The New England journal of medicine.

[48]  P. Acott,et al.  Fabry disease and nephrogenic diabetes insipidus , 2006, Pediatric Nephrology.

[49]  C. Wanner,et al.  Clinical benefit of enzyme replacement therapy in Fabry disease. , 2006, Kidney international.

[50]  G. Remuzzi,et al.  Mechanisms of progression and regression of renal lesions of chronic nephropathies and diabetes. , 2006, The Journal of clinical investigation.

[51]  R. Schiffmann,et al.  Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. , 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[52]  A. Mehta,et al.  Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey , 2006, Acta paediatrica.

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

[54]  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.

[55]  Y. Eto,et al.  Significance of screening for Fabry disease among male dialysis patients , 2005, Clinical and Experimental Nephrology.

[56]  W. Mckenna,et al.  Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with α galactosidase A , 2005, Heart.

[57]  H. Doi,et al.  Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes , 2005, Human Genetics.

[58]  S. Adler,et al.  Chloroquine-induced lipidosis mimicking Fabry disease , 2005, Modern Pathology.

[59]  G. Houge,et al.  Anemia is a new complication in Fabry disease: data from the Fabry Outcome Survey. , 2005, Kidney international.

[60]  G. Bakris,et al.  The relationship between magnitude of proteinuria reduction and risk of end-stage renal disease: results of the African American study of kidney disease and hypertension. , 2005, Archives of internal medicine.

[61]  P. Meikle,et al.  Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes. , 2005, Clinical chemistry.

[62]  A. Mehta,et al.  Vascular complications of Fabry disease: enzyme replacement and other therapies , 2005, Acta paediatrica (Oslo, Norway : 1992). Supplement.

[63]  J. Dambrosia,et al.  Pediatric Fabry Disease , 2005, Pediatrics.

[64]  D. Warnock.  Fabry disease: diagnosis and management, with emphasis on the renal manifestations , 2005, Current opinion in nephrology and hypertension.

[65]  A. Sessa,et al.  Ultrastructural Study of Renal Involvement in Two Females with Anderson-Fabry Disease , 2005, Ultrastructural pathology.

[66]  R. Mignani,et al.  Chronic renal failure, dialysis, and renal transplantation in Anderson-Fabry disease. , 2004, Seminars in nephrology.

[67]  R. Schiffmann,et al.  Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. , 2004, Kidney international.

[68]  R. Desnick,et al.  Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. , 2004, American journal of human genetics.

[69]  M. Brys,et al.  Reduced cerebral blood flow velocity and impaired cerebral autoregulation in patients with Fabry disease , 2004, Journal of Neurology.

[70]  D. Garboczi,et al.  The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. , 2004, Journal of molecular biology.

[71]  A. Mehta,et al.  Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey , 2004, European journal of clinical investigation.

[72]  C. Eng,et al.  Fabry Disease:: Renal Sonographic and Magnetic Resonance Imaging Findings in Affected Males and Carrier Females With the Classic and Cardiac Variant Phenotypes , 2004, Journal of computer assisted tomography.

[73]  J. Kriegsmann,et al.  Morbus Fabry, Glomerulonephritis mit Halbmondbildung und granulomatöse interstitielle Nephritis , 2003, Der Pathologe.

[74]  U. Ramaswami,et al.  The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents , 2003, European Journal of Pediatrics.

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

[76]  G. Remuzzi,et al.  Retarding progression of chronic renal disease: the neglected issue of residual proteinuria. , 2003, Kidney international.

[77]  A. Sessa,et al.  Renal involvement in Anderson-Fabry disease. , 2003, Journal of nephrology.

[78]  H. Schmid,et al.  Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease: case report and review of the literature. , 2003, Human pathology.

[79]  S. Packman,et al.  Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy , 2003, Annals of Internal Medicine.

[80]  F. Clayton,et al.  Shigatoxin-1 binding and receptor expression in human kidneys do not change with age , 2003, Pediatric Nephrology.

[81]  R. Colvin,et al.  Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. , 2002, Kidney international.

[82]  A. Levey.  Nondiabetic Kidney Disease , 2002 .

[83]  S. Aoki,et al.  Crescentic Glomerulonephritis in a Patient with Heterozygous Fabry’s Disease , 2002, Nephron.

[84]  J. Alroy,et al.  Renal pathology in Fabry disease. , 2002, Journal of the American Society of Nephrology : JASN.

[85]  R. Schiffmann,et al.  Natural history and treatment of renal involvement in Fabry disease. , 2002, Journal of the American Society of Nephrology : JASN.

[86]  K. Mills,et al.  Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry , 2002, FEBS letters.

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

[88]  A. Sessa,et al.  Renal ultrastructural findings in Anderson-Fabry disease. , 2002, Journal of nephrology.

[89]  R. Schiffmann,et al.  Natural History of Fabry Renal Disease: Influence of α-Galactosidase A Activity and Genetic Mutations on Clinical Course , 2002, Medicine.

[90]  R. Schiffmann,et al.  Elevated Cerebral Blood Flow Velocities in Fabry Disease With Reversal After Enzyme Replacement , 2002, Stroke.

[91]  K. Macdermot,et al.  Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males , 2001, Journal of medical genetics.

[92]  E. Lewis,et al.  Renoprotective effect of the angiotensin-receptor antagonist irbesartan in patients with nephropathy due to type 2 diabetes. , 2001, The New England journal of medicine.

[93]  T. Hostetter.  Prevention of end-stage renal disease due to type 2 diabetes. , 2001, The New England journal of medicine.

[94]  B. Brenner,et al.  Effects of losartan on renal and cardiovascular outcomes in patients with type 2 diabetes and nephropathy. , 2001, The New England journal of medicine.

[95]  D. F. Moore,et al.  Enzyme replacement therapy in Fabry disease: a randomized controlled trial. , 2001, JAMA.

[96]  G. Remuzzi,et al.  Progression, remission, regression of chronic renal diseases , 2001, The Lancet.

[97]  A. Sessa,et al.  Renal pathological changes in Fabry disease , 2001, Journal of Inherited Metabolic Disease.

[98]  A. Ojo,et al.  Excellent outcome of renal transplantation in patients with Fabry's disease. , 2000, Transplantation.

[99]  A. Kulkarni,et al.  Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. , 2000, The Journal of clinical investigation.

[100]  K. Meyers,et al.  Many cell types are Shiga toxin targets. , 2000, Kidney international.

[101]  Kazuro Furukawa,et al.  Molecular Cloning of Globotriaosylceramide/CD77 Synthase, a Glycosyltransferase That Initiates the Synthesis of Globo Series Glycosphingolipids* , 2000, The Journal of Biological Chemistry.

[102]  R. Dwek,et al.  Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis , 2000, The Lancet.

[103]  H. Sakuraba,et al.  Fabry disease in patients receiving maintenance dialysis , 2000, Clinical and Experimental Nephrology.

[104]  R. A. Wevers,et al.  The frequency of lysosomal storage diseases in The Netherlands , 1999, Human Genetics.

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

[106]  H. Sakuraba,et al.  Subclinical Fabry's disease occurring in the context of IgA nephropathy. , 1997, Clinical nephrology.

[107]  T. Nakato,et al.  A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. , 1995, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[108]  H. Sakuraba,et al.  An atypical variant of Fabry's disease in men with left ventricular hypertrophy. , 1995, The New England journal of medicine.

[109]  K. Ogura,et al.  Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine. , 1994, Archives of biochemistry and biophysics.

[110]  B. Williams,et al.  Roles of globotriosyl- and galabiosylceramide in verotoxin binding and high affinity interferon receptor. , 1987, The Journal of biological chemistry.

[111]  D. Altman,et al.  STATISTICAL METHODS FOR ASSESSING AGREEMENT BETWEEN TWO METHODS OF CLINICAL MEASUREMENT , 1986, The Lancet.

[112]  B. Rodriguez-Iturbe,et al.  RESPONSE TO ACUTE PROTEIN LOAD IN KIDNEY DONORS AND IN APPARENTLY NORMAL POSTACUTE GLOMERULONEPHRITIS PATIENTS: EVIDENCE FOR GLOMERULAR HYPERFILTRATION , 1985, The Lancet.

[113]  R. Pyeritz,et al.  Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. , 1984, American journal of clinical pathology.

[114]  R. Desnick,et al.  Silicon nephropathy mimicking Fabry's disease. , 1983, American journal of nephrology.

[115]  M. Adams,et al.  Early renal failure in Fabry's disease. , 1983, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[116]  R. Desnick,et al.  Light- and electron-microscopic histochemistry of Fabry's disease. , 1981, The American journal of pathology.

[117]  W. Bennett,et al.  Myeloid bodies in the renal tubules of humans: relationship to gentamicin therapy. , 1978, Clinical nephrology.

[118]  D. Droz,et al.  Early renal changes in hemizygous and heterozygous patients with Fabry's disease. , 1978, Kidney international.

[119]  T. Barratt,et al.  Estimation of glomerular filtration rate from plasma creatinine concentration in children. , 1976, Archives of disease in childhood.

[120]  G. Schwartz,et al.  A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. , 1976, Pediatrics.

[121]  R. Pabico,et al.  Renal pathologic lesions and functional alterations in a man with Fabry's disease. , 1973, The American journal of medicine.

[122]  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.

[123]  J. Crawhall,et al.  Ceramide trihexosidosis (fabry's disease) without skin lesions. , 1971, The New England journal of medicine.

[124]  J. O'brien,et al.  Tissue distribution of glycosphingolipids in a case of Fabry's disease. , 1969, Journal of lipid research.

[125]  H. Thölen,et al.  Angiokeratoma corporis diffusum--Fabry's disease. , 1967, Helvetica medica acta.

[126]  C. Burda,et al.  Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. , 1967, The American journal of medicine.

[127]  E. Mårtensson.  Neutral glycolipids of human kidney isolation, identification, and fatty acid composition. , 1966, Biochimica et biophysica acta.

[128]  A. Beckett,et al.  AKUFO AND IBARAPA. , 1965, Lancet.

[129]  T. Yamakawa,et al.  BIOCHEMISTRY OF ORGAN GLYCOLIPIDS. III. THE STRUCTURES OF HUMAN KIDNEY CEREBROSIDE SULFURIC ESTER, CERAMIDE DIHEXOSIDE AND CERAMIDE TRIHEXOSIDE. , 1964, Journal of biochemistry.

[130]  T. Yamakawa,et al.  THE CHEMICAL STRUCTURE OF HUMAN KIDNEY GLOBOSIDE. , 1964, Journal of biochemistry.

[131]  C. Sweeley,et al.  FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. , 1963, The Journal of biological chemistry.

[132]  E. Henry,et al.  The renal lesion in angiokeratoma corporis diffusum (Fabry's disease). , 1963, Canadian Medical Association journal.

[133]  W. Karr.  Fabry's disease (angiokeratoma corporis diffusum universale). An unusual syndrome with multisystem involvement and unique skin manifestations. , 1959, The American journal of medicine.

[134]  D. Miller,et al.  The Renal Lesion in Angiokeratoma Corporis Diffusum , 1958, British medical journal.

[135]  H. Wallace,et al.  ANGIOKERATOMA CORPORIS DIFFUSUM. , 1955, The British journal of dermatology.

[136]  A. Levin,et al.  Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test. , 2008, Clinical journal of the American Society of Nephrology : CJASN.

[137]  J. Oliveira.  Staging of Fabry disease using renal biopsies. , 2007, Clinical therapeutics.

[138]  R. Desnick,et al.  Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. , 2004, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[139]  R. Desnick,et al.  Enzyme replacement therapy for Fabry disease, an inherited nephropathy. , 2002, Clinical nephrology.

[140]  M. Wolf,et al.  Patients with Fabry disease on dialysis in the United States. , 2002, Kidney international.

[141]  C. Tei,et al.  Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease. , 2001, The American journal of cardiology.

[142]  M. Mihatsch,et al.  Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis. , 2001, Clinical nephrology.

[143]  Obert,et al.  Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease , 2001 .

[144]  G. Tognoni,et al.  Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. , 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[145]  G. Radda,et al.  Uraemic muscle metabolism at rest and during exercise. , 1994, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

[146]  D. Donati,et al.  Natural history and treatment of uremia secondary to Fabry's disease: an European experience. , 1987, Nephron.

[147]  I. Kobrin,et al.  Kidney involvement in systemic lupus erythematosus and Fabry's disease. , 1983, Nephron.

[148]  S. Updike,et al.  Clinicopathologic, enzymatic, and genetic features in a case of Fabry's disease. , 1980, Archives of pathology & laboratory medicine.

[149]  W. P. D. Groot,et al.  Angiokeratoma corporis diffusum Fabry. , 1968, Dermatologica.

[150]  W. P. D. Groot.  Angiokeratoma corporis diffusum Fabry (Thesaurismosis hereditaria Ruiter-Pompen-Wyers) , 1964 .

[151]  Hackel Db,et al.  Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis). , 1961, Transactions of the Association of American Physicians.

[152]  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 .