There is a wealth of scientific and medical information about Fabry disease that you can find at your local medical library.

  1. Lemansky P, Bishop DF, Desnick RJ, Hasilik A, von Figura K: Synthesis and processing of α-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. J Biol Chem 262:2062, 1987.
  2. Kleijer WJ, Hussaarts-Odijk LM, Sacks ES, Jahoda MGJ, Niermeijer MF: Prenatal diagnosis of Fabry's disease by direct analysis of chorionic villi. Prenat Diag 7:283, 1987.
  3. Kundu SK, Diego I, Osovitz S, Marcus DM: Glycosphingolipids of human plasma. Arch Biochem Biophys 238:388, 1985.
  4. Bach G, Rosemann E, Karni A, Cohen T: Pseudodeficiency of α-galactosidase A. Clin Genet 21:59, 1982.
  5. Meuweissen SGM, Dingemans KP, Strijland A, Tager JM, Ooms BCH: Ultrastructural and biochemical liver analyses in Fabry's disease. Hepatology 2:263, 1982.
  6. Bishop DF, Desnick RJ: Affinity purification of α-galactosidase A from human spleen, placenta and plasma with elimination of pyrogen contamination. J Biol Chem 256:1307, 1981.
  7. Bishop DF, Kovac CR, Desnick RJ: Enzyme therapy XX: Further evidence for the differential in vivo fate of human splenic and plasma forms of α-galactosidase A in Fabry disease. Recovery of exogenous activity from hepatic tissue, in Callahan JW, Lowden JA (eds): Lysosomes and Lysosomal Storage Diseases. New York, NY: Raven Press, 1981, p 381.

Biochemical Sources 1961 to 1980

  1. Desnick RJ, Dean KJ, Grabowski GA, Bishop DF, Sweeley CC: Enzyme therapy XII: Enzyme therapy in Fabry's disease: Differential enzyme and substrate clearance kinetics of plasma and splenic α-galactosidase isozymes. Proc Natl Acad Sci USA 76:5326, 1979.
  2. Bishop DF, Sweeley CC: Plasma α-galactosidase A. Properties and comparisons with tissue α-galactosidases. Biochim Biophys Acta 525:399, 1978.
  3. Kusiak JW, Quirk JM, Brady RO, Mook GE: Purification and properties of the two major isozymes of α-galactosidase from human placenta. J Biol Chem 253:184, 1978.
  4. Johnson DL, Desnick RJ: Molecular pathology of Fabry's disease: Physical and kinetic properties of α-galactosidase A in cultured human endothelial cells. Biochim Biophys Acta 538:195, 1978.
  5. Rietra PJGM, Brouwer-Kelder EM, de Groot WP, Tager JM: The use of biochemical parameters for the detection of carriers of Fabry's disease. J Mol Med 1:237, 1976.
  6. Johnson DL, Del Monte MA, Cotlier E, Desnick RJ: Fabry disease: Diagnosis of hemizygotes and heterozygotes by α-galactosidase A activity in tears. Clin Chim Acta 63:81, 1975.
  7. Romeo G, Urso M, Piszcane A, Blum E, de Falco A, Ruffilli A: Residual activity of α-galactosidase A in Fabry's disease. Biochem Genet 13:615, 1975.
  8. Rietra PJGM, van den Bergh FAJTM, Tager JM: Properties of the residual α-galactosidase activity in the tissues of a Fabry hemizygote. Clin Chim Acta 62:401, 1975.
  9. Romeo G, Dimatteo G, D'urso M, Li S-C, Li Y-T: Characterization of human α-galactosidase A and B before and after neuraminidase treatment. Biochim Biophys Acta 391:349, 1975.
  10. Rietra PJGM, Molenaar JL, Hamers MN, Tager JM, Borst P: Investigation of the α-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme. Eur. J Biochem 46:89, 1974.
  11. Ho MW: Hydrolysis of ceramide trihexoside by a specific α-galactosidase from human liver. Biochem J 133:1, 1973.
  12. Beutler E, Kuhl W: Purification and properties of human α-galactosidases. J Biol Chem 247:7195, 1972.
  13. Desnick RJ, Dawson G, Desnick SJ, Sweeley CC, Krivit W: Diagnosis of glycosphingolipidoses by urinary sediment analysis. N Engl J Med 284:739, 1971.
  14. Mapes CA, Anderson RL, Sweeley CC, Desnick RJ, Krivit W: Enzyme replacement in Fabry's disease, an inborn error of metabolism. Science 169:987, 1970.
  15. Schibanoff JM, Kamoshita S, O'Brien JS: Tissue distribution of glycosphingolipids in a case of Fabry's disease. J Lipid Res 10:515, 1969.
  16. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L: Enzymatic defect in Fabry's disease: Ceramide trihexosidase deficiency. N Engl J Med 276:1163, 1967.
  17. Lou HOC: A biochemical investigation of angiokeratoma corporis diffusum. Acta Path Microbiol Scand 68:332, 1966.
  18. Sweeley CC, Klinosky B: Fabry's disease: Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J Biol Chem 238:3148, 1963.

  1. Fisher E, Desnick RJ, Gordon R, Eng C, Griepp R, Goldman M. Fabry disease: An unusual cause of severe coronary disease in a young man. Ann Int Med 1992: 117:221.
  2. deVeber GA, Schwarting GA, Kolodny EH, Kowall NW. Fabry Disease: Immunochemical characterization of neuronal involvement. Ann Neurol 1992: 31:409.
  3. Nagao Y, Nakashima H, Fukuhara Y, Shimmoto M, Oshima A, Ikari Y, Mori Y, Sakuraba H, Suzuki Y. Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A. Clin Genet 1991: 39:233.
  4. Von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EGJ, Christomanou H, Kandolf R, Bishop DF, Desnick RJ. An atypical variant of Fabry's disease confined to the heart. New Engl J Med 1991: 324:395.
  5. Levade T, Giordano F, Maret A, Marguery M-C, Bazex J, Salvayre R. Different phenotypic expression of Fabry disease in female monozygotic twins. J Inher Metab Dis 1991: 14:105.
  6. Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y. Fabry disease: Detection of a 13-bp deletion in α-galactosidase A gene and its application to gene diagnosis of heterozygotes. Ann Neurol 1991: 29:560.
  7. Kirkilionis AJ, Riddell DC, Spence MW, Fenwick RG: Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte α-galactosidase activity and an NcoI polymorphism detected by an α-galactosidase cDNA clone. J Med Genet 1991: 28:232.
  8. Mosnier JF, Degott C, Bedrossian J, Molas G, Degos F, Pruna A, Potet F. Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991: 51:759.

Clinical Publications 1981 to 1990

  1. Morgan SH, Rudge P, Smith SJM, Bronstein AM, Kendall BE, Holly E, Young EP, Crawfurd Md'A, Bannister R. The neurological complications of Anderson-Fabry disease (α-Galactosidase A deficiency)- investigation of symptomatic and presymptomatic patients. Quart J Med 1990: 277:491.
  2. García-Consuegra J, Padrón M, Jaureguizar E, Carrascosa C, Ramos J. Priapism and Fabry disease: A case report. Eur J Pediatr 1990: 149:500.
  3. Hozume I, Nishizawa M, Ariga T, Miyatake T. Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. J Lipid Res 1990: 31:335.
  4. Matsui S, Murakami E, Takekoshi N, Nakatou H, Enyama H, Takeda F. Myocardial tissue characterization by magnetic resonance imaging in Fabry's disease. Am Heart J 1989: 117:472.
  5. Moumdjian R, Tampieri D, Melanson D, Ethier R. Anderson-Fabry disease: A case report with MR, CT, and cerebral angiography. Am J Neuro Radiol 1989: 10:S69.
  6. Mayou SC, Kirby JD, Morgan SH. Anderson-Fabry disease: an unusual presentation with lymphadenopathy. J Royal Soc Med 1989: 82:555.
  7. Nelis GF, Jacobs GJA. Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease). Dig Dis Sci 1989: 34:1798.
  8. Schachern PA, Shea DA, Paparella MM, Yoon TH. Otologic histopathology of Fabry's disease. Ann Otol Rhinol Laryngol 1989: 98:359.
  9. Hozumi I, Nishizawa M, Ariga T, Inoue Y, Ohnishi Y, Yokoyama A, Shibata A, Miyatake T. Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease. J Neurol Sci 1989: 90:273.
  10. Filling-Katz MR, Merrick HF, Fink JK, Miles RB, Sokol J, Barton NW. Carbamazepine in Fabry's disease: Effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989: 39:598.
  11. Newton JA, McGibbon DH. The treatment of multiple angiokeratoma with the argon laser. Clin Exp Dermatol 1987: 12:23.
  12. Hobbs ER, Ratz JL. Argon laser treatment of angiokeratomas. J Dermatol Surg Oncol 1987: 13:1319.
  13. Donati D, Novario R, Gastaldi L. Natural history and treatment of uremia secondary to Fabry's disease: A European experience. Nephron 1987: 46:353.
  14. Friedlender MM, Kopolovic J, Rubinger D, Silver J, Drukker A, Ben-Gershon Z, Durst AL, Poportzer MM. Renal biopsy in Fabry's disease eight years after successful renal transplantation. Clin Nephrol 1987: 27:206.
  15. Efthimiou J, McLelland J, Bettridge DJ. Short P-R intervals and tachyarrhythmias in Fabry's disease. Postgrad Med J 1986: 62:285.
  16. Goldman M, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol 1986: 7:1157.
  17. Sakuraba H, Yanagawa Y, Igarashi T, Suzuki Y, Suzuki T, Watanabe K, Ieki K, Shimoda K, Yamanaka T. Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes. Clin Genet 1986: 29:276.
  18. Igarashi T, Sakuraba H, Suzuki Y. Activation of platelet function in Fabry's disease. Am J Hematol 1986: 22:63.
  19. Kobayashi T, Kira J, Shinnoh N, Goto I, Kuroiwa Y. Fabry's disease with partially deficient hydrolysis of ceramide trihexoside. J Neurol Sci 1985: 67:179.
  20. Elleder M. Fabry's disease. Absence of storage as a feature of liver sinus endothelium. Acta Histochem 1985: 77:33.
  21. Macrae WG, Ghosh M, McCulloch C. Corneal changes in Fabry disease: A clinicopathologic case report of a heterozygote. Ophthalmic Pediatr Genet 1985: 5:185.
  22. Friedman LS, Kirkham SE, Thistlethwaite JR, Platika D, Kolodny EH, Schuffler MD. Jejunal diverticulosis with perforation as a complication of Fabry's disease. Gasteroenterology 1984: 86:558.
  23. Roberts DH, Gilmore IT. Achalasia in Anderson-Fabry disease. J Royal Soc Med 1984: 77:430.
  24. Chatterjee S, Gupta P, Pyeritz RE, Kwiterovich PO. Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease. Am J Clin Pathol 1984: 82:24.
  25. Gemignani F, Marbini A, Bragaglia MM, Govoni E. Pathological study of the sural nerve in Fabry's disease. Eur Neurol 1984: 23:173-181.
  26. Kramer W, Thormann J, Mueller K, Frenzel H. Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. Intl J Cardiol 1984: 7:72.
  27. Cohen IS, Fluri-Lundeen J, Wharton TP. Two-dimensional echocardiographic similarity of Fabry's disease to cardiac amyloidosis: A function of ultrastructural analogy? J Clin Ultrasound 1983: 11:437.
  28. Sheth KJ, Roth DA, Adams MB. Early renal failure in Fabry's disease. Am J Kidney Dis 1983: 2:651.
  29. Rosenmann E, Kobrin I, Cohen T. Kidney involvement in systemic lupus erythematosus and Fabry's disease. Nephron 1983: 34:180.
  30. Seino Y, Vyden JK, Philippart M, Rose HB, Nagasawa K. Peripheral hemodynamics in patients with Fabry's disease. Am Heart J 1983: 105:783.
  31. Gadoth N, Sandbank, U. Involvement of dorsal root ganglia in Fabry's disease. J Med Genet 1983: 20:309.
  32. Sorensen SA, Hasholt L. Attitudes of persons at risk for Fabry's disease toward predictive and genetic counseling. J Bio Soc Sci 1983: 15:89.
  33. Colucci WS, Lorell BH, Schoen FJ, Warhol MJ, Grossman W. Hypertrophic obstructive cardiomyopathy due to Fabry's disease. New Engl J Med 1982: 2:926.
  34. O'Brien BD, Shnitka TK, McDougall R, Walker K, Costopoulos L, Lentle B, Anholt L, Freeman H, Thomson ABR. Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease. Gastroenterology 1982: 82:957.
  35. Cable WJL, Kolodny EH, Adams RD. Fabry disease: Impaired autonomic function. Neurology 1982: 32:498.
  36. Cable WJ, Dvorak AM, Osage JE, Kolodny EH. Fabry disease: Significance of ultrastructural localization of lipid inclusions in dermal nerves. Neurology 1982: 32:347.
  37. Clement M, Monkhouse PM, Marten RH, Parsons V, McGonigle RJS, Keogh AM, Bewick M. Renal transplantation in Anderson-Fabry disease. J Royal Soc Med 1982: 75:557.
  38. Sheth KJ, Werlin SL, Freeman ME, Hodach AE. Gastrointestinal structure and function in Fabry's disease. Am J Gastroenterol 1981: 76:246.
  39. Bishop DF, Grabowski GA, Desnick RJ. Fabry disease: An asymptomatic hemizygote with significant residual α-galactosidase A activity (Abstract). Am J Hum Genet 1981: 33:71A.
  40. Broadbent JC, Edwards WD, Gordon H, Hartzler GO, Krawisz JE. Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. Mayo Clin Proc 1981: 56:623.
  41. Farraggiana T, Churg J, Grisham E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnick RJ. Light and electron microscopic histochemistry of Fabry disease. Am J Pathol 1981: 103:247.
  42. Nakamura T, Kaneko H, Nishino I. Angiokeratoma corporis diffusum (Fabry disease): Ultrastructural studies of the skin. Acta Dermatovener 1981: 61:37.
  43. Dvorak AM, Cable WJL, Osage JE, Kolodny E. Diagnostic electron microscopy. II. Fabry's disease: Use of biopsies from uninvolved skin. Acute and chronic changes involving the microvasculature and small unmyelinated nerves. Pathol Annual 1981: 16:139.
  44. Pelissier JF, Van Hoof F, Bourdet-Bonerandi D, Monier-Faugere MC, Toga M. Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease. Muscle Nerve 1981: 4:381.
  45. Maizel SE, Simmons RL, Kjellstrand C, Fryd DS. Ten year experience in renal transplantation in Fabry's disease. Transplant Proc 1981: 13:57.

Clinical Publications 1971 to 1980

  1. Bass JL, Shrivastava S, Grabowski GA, Desnick RJ, Moller JH: The M-mode echocardiogram in Fabry's disease. Am Heart J 100:807, 1980.
  2. Maisey DN, Cosh JA: Basilar artery aneurysm and Anderson-Fabry disease. J Neurol Neurosurg Psych 43:85, 1980.
  3. Sheth KJ, Swick HM: Peripheral nerve conduction in Fabry's disease. Ann Neurol 7:319, 1980.
  4. Rosenberg DM, Ferrans VJ, Fulmer JD, Line BR, Barranger JA, Brady RO, Crystal RG: Chronic airflow obstruction in Fabry's disease. Am J Med 68:898, 1980.
  5. Breathnach SM, Black MM, Wallace HJ: Anderson-Fabry disease: Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy. Br J Dermatol 103:81, 1980.
  6. Burkholder PM, Updike SJ, Ware RA, Reese OG: Clinicopathologic, enzymatic and genetic features in a case of Fabry's disease. Arch Pathol Lab Med 104:17, 1980.
  7. Sheth KJ, Bernhard GC: The arthropathy of Fabry disease. Arthr Rheumat 22:781, 1979.
  8. Sher NA, Letson RD, Desnick RJ: The ocular manifestations in Fabry's disease. Arch Ophthalmol 97:671, 1979.
  9. Gemignani F, Pietrini Y, Tagliavini F, Lechi A, Neri TM, Asinari A, Savi M: Fabry's disease with familial lymphedema of the lower limbs. Eur Neurol 18:84, 1979.
  10. Sung JH: Autonomic neurons affected by lipid storage in the spinal cord of Fabry's disease: Distribution of autonomic neurons in the sacral cord. J Neuropathol Expt Neurol 38:87, 1979.
  11. Hamers MN, Wise D, Ejiofor A, Strijland A, Robinson D, Tager JM: Relationship between biochemical and clinical features in an English Anderson-Fabry Family. Acta Med Scand 206:5, 1979.
  12. Ainsworth SK, Smith RM: A case study of Fabry's disease occurring in a Black kindred without peripheral neuropathy or skin lesions. Lab Invest 38:373, 1978.
  13. Rowe JW, Caralis DG: Accelerated atrioventricular conduction in Fabry's disease: A case report. Angiology 29:562, 1978.
  14. Kariman K, Singletary WV Jr, Sieker HO: Pulmonary involvement in Fabry's disease. Am J Med 64:911, 1978.
  15. Gubler MC, Lenoir G, Grunfled J-P, Ulmann A, Droz D, Habib R: Early renal changes in hemizygous and heterozygous patients with Fabry's disease. Kidney Intl 13:223, 1978.
  16. Shapiro D, Acher AJ: Total synthesis of ceramide trihexoside accumulating with Fabry's disease. Chem Phys Lipids 197:206, 1978.
  17. Mehta J, Tuna N, Moller JH, Desnick RJ: Electrocardiographic and vector-cardiographic abnormalities in Fabry's disease. Am Heart J 93:699, 1977.
  18. Matsui S, Murakami E, Takekoshi N: Cardiac manifestations of Fabry's disease. Nippon Junkankigaku Shi 41:1023, 1977.
  19. Tome FMS, Fardeau M, Leoir G: Ultrastructure of muscle and sensory nerve in Fabry disease. Acta Neuropathol 38:187, 1977.
  20. Desnick RJ, Bleiden LD, Sharp HL, Moller JH: Cardiac valvular anomalies in Fabry's disease: Clinical, morphologic and biochemical studies. Circulation 54:818, 1976.
  21. Hashimoto K, Lieberman P, Lamkin N Jr: Angiokeratoma corporis diffusum (Fabry disease). Arch Dermatol 112:1416, 1976.
  22. van den Bergh FAJTM, Rietra PJGM, Kolk-Vegter AJ, Bosch E, Tager JM: Therapeutic implications of renal transplantation in a patient with Fabry's disease. Acta Med Scand 200:249, 1976.
  23. Becker AE, Schoorl R, Balk AG, van Der Heide RM: Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. Am J Cardiol 36:829, 1975.
  24. Sung JH, Hayano M, Mastri AR, Desnick RJ: Neuropathology and neural glycosphingolipid deposition in Fabry's disease. Excerpta Med Cong Ser 1:267, 1975.
  25. Fukuhara N, Suzuki M, Fujita N, Tsubaki T: Fabry's disease on the mechanism of the peripheral nerve involvement. Acta Neuropathol (Berl) 33:9, 1975.
  26. Funderburk SJ, Philippart M, Dale G, Cederbaum SD, Vyden JK: Priapism after phenoxybenzamine in a patient with Fabry's disease. New Engl J Med 290:630, 1974.
  27. Rowe JW, Gilliam JI, Warthin TA: Intestinal manifestations of Fabry's disease. Ann Intern Med 81:628, 1974.
  28. Ohnishi A, Dyck PJ: Loss of small peripheral sensory neurons in Fabry disease. Histologic and morphometric evaluation of cutaneous nerves, spinal ganglia, and posterior columns. Arch Neurol 31:120, 1974.
  29. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W: Enzymatic diagnosis of hemizygotes and heterozygotes. Fabry's disease. J Lab Clin Med 81:157, 1973.
  30. Brady RO, Tallman JF, Johnson WG, Gal AE, Leahy WR, Quirk JM, Dekaban AS: Replacement therapy for inherited enzyme deficiency: Use of purified ceramidetrihexosidase in Fabry's disease. N Engl J Med 289:9, 1973.
  31. Lockman LA, Hunninghake DB, Krivit W, Desnick RJ: Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 23:871, 1973.
  32. Liston EH, Levine MD, Philippart M: Psychosis in Fabry's disease and treatment with phenoxybenzamine. Arch Gen Psychiat 29:402, 1973.
  33. Pabico RC, Atanacio BC, McKenna BA, Pamurcoglu T, Yodaiken R: Renal pathologic lesions and functional alterations in a man with Fabry's disease. Am J Med 55:415, 1973.
  34. Wilson SK, Klionsky BL, Rhamy RK: A new etiology of priapism: Fabry's disease. J Urol 109:646, 1973.
  35. Grunnet ML, Spilsbury PR: The central nervous system in Fabry's disease. Arch Neurol 28:231, 1973.
  36. Kahn P: Anderson-Fabry disease: A histopathological study of three cases with observations on the mechanism of production of pain. J Neurol Neurosurg Psych 36:1053, 1973.
  37. Desnick RJ, Raman MK, Bendel RP, Kersey J, Lee JC, Krivit W: Prenatal diagnosis of glycosphingolipidoses: Sandhoff's (SD) and Fabry's diseases (FD). J Pediatr 83:149, 1973.
  38. Buhler FR, Thiel G, Dubach VC, Enderlin F, Gloor F, Tholen H: Kidney transplantation in Fabry's disease. Brit Med J 3:28, 1973.
  39. Desnick RJ, Allen KY, Simmons RL, Woods JE, Anderson CF, Najarian JS, Krivit W: Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery 72:203, 1972.
  40. Font RL, Fine BS: Ocular pathology in Fabry's disease. Histochemical and electron microscopic observations. Am J Opthalmol 73:419, 1972.
  41. Clarke JTR, Guttmann RD, Wolfe LS, Beaudoin JG, Morehouse DD: Enzyme replacement therapy by renal allotransplantation in Fabry's disease. New Engl J Med 287:1215, 1972.
  42. Clarke JTR, Knaack J, Crawhall JC, Wolfe LS: Ceramide trihexosidosis (Fabry's disease) without skin lesions. N Engl J Med 284:233, 1971.

Clinical Publications 1961 to 1970

  1. Kint JA: Fabry's disease, α-galactosidase deficiency. Science 167:1268, 1970.
  2. Kocen RS, Thomas PK: Peripheral nerve involvement in Fabry's disease. Arch Neurol 22:81, 1970.
  3. van Mullem PJ, Ruiter M: Fine structure of the skin in angiokeratoma corporis diffusum (Fabry's disease). J Pathol 101:221, 1970.
  4. Ferrans VJ, Hibbs RB, Burda CD: The heart in Fabry's disease: A historical chemical and electron microscopic study. Am J Cardiol 24:95, 1969.
  5. Tarnowski WM, Hashimoto K: New light microscopic skin findings in Fabry's disease. Acta Dermatol-Venereol 49:386, 1969.
  6. Bagdale JD, Parker F, Ways PO, Morgan TE, Lagunoff D, Eidelman S: Fabry's disease: A correlative clinical, morphologic, and biochemical study. Lab Invest 18:681, 1968.
  7. Johnston AW, Weller SD, Warland BJ: Angiokeratoma corporis diffusum. Some clinical aspects. Arch Dis Child 43:73, 1968.
  8. Steward VW, Hitchcock C: Fabry's disease (angiokeratoma corporis diffusum): A report of 5 cases with pain in extremities as the chief symptom. Pathol Eur 3:377, 1968.
  9. Sagebiel RW, Parker F: Cutaneous lesions of Fabry's disease: Glycolipid lipidosis - light and electron microscopic findings. J Invest Dermatol 50:208, 1968.
  10. Burda CD, Winder PR: Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. Am J Med 42:293, 1967.
  11. Urbain G, Peremans J, Philippart M: Fabry's disease without skin lesions. Lancet 1:1111, 1967.
  12. Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H: Angiokeratoma corporis diffusum - Fabry's disease. Helv Med Acta 34:67, 1967.
  13. Wallace RD, Cooper, WJ: Angiokeratoma corporis diffusum universale (Fabry). Am J Med 39:656, 1965.
  14. Spaeth GL, Frost P: Fabry's disease: Its ocular manifestations. Arch Ophthalmol (Chicago) 74:760, 1965.
  15. Hashimoto K, Gross BG, Lever WF: Angiokeratoma corporis diffusum (Fabry): Histochemical and electron microscopic studies of the skin. J Invest Dermatol 44:119, 1965.
  16. Rahman AN, Lindenberg R: The neuropathology of hereditary dystopic lipidosis. Arch Neurol (Chicago) 9:373, 1963.
  17. Bethune JE, Landrigan PL, Chipman CD: Angiokeratoma corporis diffusum (Fabry's disease in two brothers). N Eng J Med 264:1280, 1961.
  18. Wise D, Wallace HJ, Jellinck EH: Angiokeratoma corporis diffusum: A clinical study of eight affected families. Quart J Med 31:177, 1962.

  1. Fessas P, Wintrobe MM, Cartwright GE. Angiokeratoma corporis diffusum universale (Fabry): First American report of a rare disorder. Arch Intern Med 1955; 95:469.
  2. Brown A, Milne JA. Diffuse angiokeratoma: Report of two cases with diffuse skin changes, one with neurological symptoms and splenomegaly. Glasgow J Med 1952: 33:361.
  3. Pompen AWM, Ruiter M, Wyers JJG. Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: Two autopsy reports. Acta Med Scand 1947: 128:234.
  4. Gruber H. Cornea verticillata. Ophthalmologica 1946: 111:120.
  5. Traub EF, Tolmach JA. Angiokeratoma. Comprehensive study of the literature and report of a case. Arch Derm Syph 1931: 24:39.
  6. Fabry J. Weiterer Beitrag zur Klinik des Angiokeratoma naeviforme (Naevus angiokeratosus). Dermatol Wchnschr 1930: 90:339.
  7. Anderson W. A case of angiokeratoma. Brit J Derm 1898: 10:113.
  8. Fabry J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch Dermatol Syph 1898: 43:187.
  9. Fordyce JA. Angiokeratoma of the scrotum. J Cutan Genitourin Dis 1896: 14:81.

  1. Kornreich R, Desnick RJ: Fabry disease: Detection of gene rearrangements in the human α-galactosidase A gene by multiplex PCR amplification. Hum Mutation 2:108, 1993.
  2. Ishii S, Sakuraba H, Suzuki Y: Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29, 1992.
  3. Ioannou YA, Bishop DF, Desnick RJ: Overexpression of human α-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol 119: 1137, 1992.
  4. Sakuraba H, Eng CM, Desnick RJ, Bishop DF: Invariant exon skipping in the human α-Galactosidase A pre-mRNA: A g+1 to t substitution in a 5a-splice site causing Fabry disease. Genomics 12:643, 1992.
  5. Kornreich R, Astrin KH, Desnick RJ: Amplification of human polymorphic sites in the X-chromosome region q21.33 to q24: DXS17, DXS87, DXS287, and α-galactosidase A. Genomics 13:70, 1992.
  6. Wang AM, Desnick RJ: Structural organization and complete sequence of the human -N-acetylgalactosaminidase gene. Homology with the a-galactosidase A gene provides evidence for evolution from a common ancestral gene. Genomics 10:133, 1991.
  7. Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y: Fabry disease: Detection of a 13-bp deletion in α-galactosidase A gene and its application to gene diagnosis of heterozygotes. Ann Neurol 29:560, 1991.
  8. Kirkilionis AJ, Riddell DC, Spence MW, Fenwick RG: Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte -galactosidase activity and an NcoI polymorphism detected by an α-galactosidase cDNA clone. J Med Genet 28:232, 1991.

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