Fabry

Bibliography | Selected Papers

Anderson W "A case of "Angeio-keratoma"" Brit J Dermatol 1898; 10:113-7

Argoff CE, Barton NW, Brady RO, Ziessman HA. "Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide" Nucl Med Commun 1998; 19(9):887-9

Ashton-Prolla P, Ashley GA, Giugliani R, Pires RF, Desnick RJ, Eng CM "Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG)" Am J Med Genet 1999; 84(5):420-4

Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, Grewal RP, Yu K-T, collaborators "Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease" N Engl J Med 1991; 324(21):1464-70

Bishop DF, Calhoun DH, Bernstein HS, Hanzopoulos P, Quinn M, Desnick RJ "Human a galactosidase A: Nucleotide sequence of a cDNA clone encoding the mature enzyme" Proc Natl Acad Sci U S A 1986; 83:4859-63

Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L "Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency" N Engl J Med 1967; 296:1163-7

Brown LK, Miller A, Bhuptani A, Sloane MF, Zimmerman MI, Schilero G, Eng CM, Desnick RJ "Pulmonary involvement in Fabry disease" Am J Respir Crit Care Med 1997; 155(3):1004-10

Caggana M, Ashley GA, Desnick RJ, Eng CM "Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1" Am J Med Genet 1997; 71(3):329-35

Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H "Angiokeratoma corporis diffusum - Fabry's disease" Helv Med Acta 1967; 34:67-83

Desnick RJ, Dean KJ, Grabowski G, Bishop DF, Sweely CC "Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes" Proc Natl Acad Sci U S A 1979; 76(10):5326-30

Desnick RJ, Ioannou YA, Eng CM "Alpha Galactosidase A deficiency: Fabry disease. In: The Metabolic Bases of Inherited Disease" New York: McGraw Hill, 2001; 3733-74

Elleder M, Bradova V, Smid F, Budesinsky M, Harzer K, Kustermann-Kuhn B, Ledvinova J, Belohlavek, Kral V, Dorazilova V "Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy" Virchows Arch A Pathol Anat Histopathol 1990; 417(5):449-55

Elleder M, Poupetová H, Kožich V "Fetální patologie Fabryho nemoci a mukopolysacharidózy I" Cesk Patol 1998; 1:7-12

Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, Gass A, Winston J, Dikman S, Fallon JF, Brodie S, Stacy CB, Mehta D, Parsons R, Norton K, O'Callaghan M, Desnick RJ "A Phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies" Am J Hum Genet 2001; 68:711-22

Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Lidthorst GE, Desnick RJ "Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease" N Eng J Med 2001; 345(1):9-16

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Soms K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR “Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement” Genet Med 2006: 8(9): 539-548

Fabry J "Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae)" Arch Dermatol Syphilis 1898; 43:187-200

Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, Parker C, Schiffmann R, Hill SC, Brady RO "Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources" Ann Intern Med 1995; 122(1):33-9

Grabowski GA, Leslie N, Wenstrup R "Enzyme therapy for Gaucher disease: the first 5 years" Blood Rev 1998 Jun; 12(2):115-33

Grewal RP, McLatchey SK "Cerebrovascular manifestations in a female carrier of Fabry's disease" Acta Neurol Belg 1992; 92(1):36-40

Grewal RP "Stroke in Fabry's disease" J Neurol 1994; 241:153-6

Ioannou YA, Zeidner KM, Gordon RE, Desnick RJ "Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice" Am J Hum Genet 2001; 68:14-25

Kint JA "Fabry's disease: alpha-galactosidase deficiency" Science 1970; 167(922):1268-9

Knol IE, Ausems MG, Lindhout D, van Diggelen OP, Verwey H, Davies J, Ploos van Amstel JK, Poll-The BT "Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation" Am J Med Genet 1999; 82(5):436-9

Kolodny EH "Fabry disease. In: Bogousslavsky J, Caplan L, eds. Stroke Syndromes" New York: Cambridge University Press 1995; 453-9

Kramer W, Thormann J, Mueller K, Frenzel H "Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation" Internat J Cardiol 1985; 7:72-5

Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN "Human gene mutation database-a biomedical information and research resource" Hum Mutat 2000; 15(1):45-51

Lubiniecki AS "Relationships among product characteristics, process validation and preclinical/clinical studies for well-characterized products" Dev Biol Stand 1998; 96:173-5

Maizel SE, Simmons RL, Kjellstrand C, Fryd DS "Ten-year experience in renal transplantation for Fabry's Disease" Transplant Proc 1981; 13:57-9

Mayes JS, Scheerer JB, Sifers RN, Donaldson ML "Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease" Clin Chim Acta 1981; 112:247-51

Meikle PJ, Hopwood JJ, Clague AE, Carey WF "Prevalence of lysosomal storage disorders" JAMA 1999; 281(3):249-54

Menkes DL, O'Neil TJ, Saenz KK "Fabry's disease presenting as syncope, angiokeratomas, and spoke-like cataracts in a young man: discussion of the differential diagnosis" Mil Med 1997; 162(11):773-6

Meroni M, Sessa A, Battini G, Tazzari S, Tarelli LT "Kidney involvement in Anderson-Fabry disease" Contrib Nephrol 1997; 122:178-84

Mistry PK "Gaucher's disease: a model for modern management of a genetic disease" J Hepatol 1999; 30 Suppl 1:1-5

Mitsias P, Levine SR "Cerebrovascular complications of Fabry's disease" Ann Neurol 1996; 40(1):8-17

Morgan SH, Crawfurd MA "Anderson-Fabry disease" BMJ 1988; 297(6653):872-3

Morgan SH, Rudge P, Smith SJM, Bronstein AM, Kendall BE, Holly E, Young EP, Crawfurd MD, Bannister R "The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency) - investigation of symptomatic and presymptomatic patients" Q J Med 1990; 277:491-504

Nakao S, Takenaka T, Maeda M, Kodama C, Takana A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, Tanaka H "An atypical variant of Fabry's disease in men with left ventricular hypertrophy" N Engl J Med 1995; 333(5):288-93

Ohshima T, Murray GJ, Swaim WD, Longenecker G, Quirk JM, Cardarelli CO, Sugimoto Y, Pastan I, Gottesman MM, Brady RO, Kulkarni AB "alpha-Galactosidase A deficient mice: a model of Fabry disease" Proc Natl Acad Sci U S A 1997; 94(6):2540-4

Okuda S "Renal involvement in Fabry's disease" Intern Med 2000; 39(8):601-2

Peters FPJ, Sommer A, Vermeulen A, Cheriex EC, Kho TL "Fabry's disease: a multidisciplinary disorder" Postgrad Med J 1997; 73:710-2

Peters FPJ, Vermeulen A, Kho TL "Anderson-Fabry's disease: alpha galactosidase deficiency" Lancet 2001; 357(9250):138-40

Pompen AWM, Ruiter M, Wyers HJG "Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: two autopsy reports" Acta Med Scand 1947; 128:234-55

Shelley ED, Shelley WB, Kurczynski TW "Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease" Pediatr Dermatol 1995; 12(3):215-9

Sheth KJ, Roth DA, Adams MB "Early renal failure in Fabry's disease" Am J Kidney Dis 1983; II(6): 651-4

Shirai T, Ohtake T, Kimura M, Iwata M, Fujigaki Y, Takayanagi S, Chida K, Nakamura H, Hishida A, Irie F "Atypical Fabry's disease presenting with cholesterol crystal embolization" Intern Med 2000; 39(8):646-9

Spence MW, MacKinnon KE, Burgess JK, d'Entremont DM, Belitsky P, Lannon SG, MacDonald AS "Failure to correct the metabolic defect by renal allotransplantation in Fabry's disease" Ann Intern Med 1976; 84(1):13-6

Sweeley CC, Klionsky B "Fabry's disease: classification as sphingolipidosis and partial characterization of a novel glycolipid" J Biol Chem 1963; 238:3148-50

Tsakiris D, Simpson KL, Jones P, Briggs JD, Elinder C-G, Mendel S, Piccoli G, dos Santos JP, Tognoni G, Vanrenterghem Y, Valderrabano F "Rare diseases in renal replacement therapy in the EDRA-EDTA registry" Nephrol Dial Transplant 1996; 11:4-20

von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EGJ, Christomanou H, Kandolf R, Bishop D, Desnick RJ "An atypical variant of Fabry's disease with manifestations confined to the myocardium" N Engl J Med 1991; 324:395-9

Yoshitama T, Nakao S, Takenaka T, Teraguchi H, Sasaki T, Kodama C, Tanaka A, Kisanuki A, Tei "Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease" Am J Cardiol 2001; 87(1): 71-5

Wang AM, Ioannou YA, Zeidner KM, Gotlib RW, Dikman S, Stewart CL, Desnick RJ "Fabry disease: generation of a mouse model with alpha-galactosidase A deficiency" Am J Hum Genet 1996; 59:A208