General Interest

Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP.Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genet Med. 2008 May;10(5):353-8.

Clarke JT.Narrative review: Fabry disease. Ann Intern Med. 2007 Mar 20;146(6):425-33.

Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M,  Grabowski G, Packman S, Wilcox WR. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis,management,and enzyme replacement therapy. Ann of Int Med 2003: 138(4):338-346.

Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B (eds) The Metabolic and Molecular Bases of Inherited Diseases, McGraw-Hill, New York, 2001, pp 3733-3774.

Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007 Apr;30(2):184-92.

Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis. 2009 Oct 11;4:21.

Linthorst GE, Bouwman MG, Wijburg FA, Aerts JM, Poorthuis BJ, Hollak CE. Screening for Fabry disease in high risk populations: a systematic review. J Med Genet. 2009 Sep 24.

European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006;43:347-352.

Gupta S, Ries M, Kotsopoulos S, Schiffmann R. The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women. Medicine 2005 Sep;84(5):261-8.

Laaksonen SM, Röyttä M, Jääskeläinen SK, Kantola I, Penttinen M, Falck B. Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol. 2008 Jun;119(6):1365-72.

Møller AT, Bach FW, Feldt-Rasmussen U, Rasmussen AK, Hasholt L, Sommer C, Kølvraa S, Jensen TS. Autonomic skin responses in females with Fabry disease. J Peripher Nerv Syst. 2009 Sep;14(3):159-64.

Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M, Kampmann C. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med. 2009 Jun;11(6):441-9.

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb;93(2):112-28.

Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP, Lemay R, Tylki-Szymanska A, Wilcox WR. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008 Nov;64(5):550-5.

Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement therapy. Eur J Pediatr. 2009 Nov;168(11):1355-63.

Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M. Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr. 2006 Jan;95(1):86-92.

Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL, Pastores G, Lien YH, Kampmann C, Brady RO, Beck M, Schiffmann R. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics. 2006 Sep;118(3):924-32.

Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563-70.

Renal Manifestations

Cho ME, Kopp JB. Fabry disease in the era of enzyme replacement therapy: a renal perspective. Pediatric Nephrology 2004; 19(6):583-593.

Fogo AB, Bostad L, Svarstad E, Cook WJ, Moll S, Barbey F, Geldenhuys L, West M, Ferluga D, Vujkovac B, Howie AJ, Burns A, Reeve R, Waldek S, Noël LH, Grünfeld JP, Valbuena C, Oliveira JP, Müller J, Breunig F, Zhang X, Warnock DG; all members of the International Study Group of Fabry Nephropathy (ISGFN). Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN). Nephrol Dial Transplant. 2009 Oct 15.

Germain DP, Waldek S, Banikazemi M, Bushinsky DA, Charrow J, Desnick RJ, Lee P, Loew T, Vedder AC, Abichandani R, Wilcox WR, Guffon N. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol. 2007 May;18(5):1547-57.

Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11.

Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder-Plassmann G. Enzyme replacement therapy and renal function in 201 patients with Fabry disease.Clin Nephrol. 2006 Aug;66(2):77-84.

Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol. 2007 Sep;18(9):2609-17.

Thofehrn S, Netto C, Cecchin C, Burin M, Matte U, Brustolin S, Nunes AC, Coelho J, Tsao M, Jardim L, Giugliani R, Barros EJ. Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience. Ren Fail. 2009;31(9):773-8.

Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, Desnick RJ, O'Callaghan M. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62: 1933-1946.

Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv Chronic Kidney Dis. 2006 Apr;13(2):138-47.

Barbey F, Qanadli SD, Juli C, Brakch N, Palacek T, Rizzo E, Jeanrenaud X, Eckhardt B, Linhart A. Aortic remodeling in Fabry disease. Eur Heart J. 2009 Oct 21.

Brakch N, Dormond O, Bekri S, Golshayan D, Correvon M, Mazzolai L, Steinmann B, Barbey F. Evidence for a role of sphingosine-1 phosphate in cardiovascular remodeling in Fabry disease. Eur Heart J. 2009 Sep 22.

De Cobelli F, Esposito A, Belloni E, Pieroni M, Perseghin G, Chimenti C, Frustaci A, Del Maschio A. Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol. 2009 Mar;192(3):W97-102.

Kalliokoski RJ, Kantola I, Kalliokoski KK, Engblom E, Sundell J, Hannukainen JC, Janatuinen T, Raitakari OT, Knuuti J, Penttinen M, Viikari J, Nuutila P. The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease. J Inherit Metab Dis. 2006 Feb;29(1):112-8.

Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M. Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr. 2008 Apr;97(4):463-9.

Pieroni M, Chimenti C, De Cobelli F, Morgante E, Del Maschio A, Gaudio C, Russo MA, Frustaci A. Fabry's disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol. 2006 Apr 18;47(8):1663-71.

Pieroni M, Chimenti C, Russo A, Russo MA, Maseri A, Frustaci A. Tissue doppler imaging in Fabry disease. Curr Opin Cardiol. 2004; 19(5):452-457.

Sachdev B, Takenaka T, Teraguchi H, Tei C, Lee P, McKenna WJ, Elliott PM. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105:1407-1411.

Sheppard MN, Cane P, Florio R, Kavantzas N, Close L, Shah J, Lee P, Elliott P. A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy. Cardiovasc Pathol. 2009 Jul 22.

Thurberg BL, Fallon JT, Mitchell R, Aretz T, Gordon RE, O'Callaghan MW. Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy. Circulation. 2009 May 19;119(19):2561-7.

Wasik JS, Simon RW, Meier T, Steinmann B, Amann-Vesti BR. Nailfold capillaroscopy: Specific features in Fabry disease. Clin Hemorheol Microcirc. 2009;42(2):99-106.

Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003; 108:1299-1301.

Weidemann F, Linhart A, Monserrat L, Strotmann J. Cardiac challenges in patients with Fabry disease. Int J Cardiol. 2009 Aug 29.

Neurologic Manifestations

Crosbie TW, Packman W, Packman S. Psychological Aspects patients with Fabry disease. J Inherit Metab Dis. 2009 Oct 31.

Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: the effect of agalsidase alfa replacement therapy. J Inherit Metab Dis 2003; 26:787-794.

Hilz MJ, Brys M, Marthol H, Stemper B, Dutsch M. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 2004; 62:1066-1072.

Maag R, Binder A, Maier C, Scherens A, Toelle T, Treede RD, Baron R. Detection of a characteristic painful neuropathy in Fabry disease: a pilot study. Pain Med. 2008 Nov;9(8):1217-23.

Ries M, Mengel E, Kutschke G, Kim KS, Birklein F, Krummenauer F, Beck M. Use of gabapentin to reduce chronic neuropathic pain in Fabry disease. J Inherit Metab Dis. 2003; 26:413-414.

Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y, Khurana RK, Brady RO. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 2003; 28:703-710.

Dehout F, Roland D, Treille de Granseigne S, Guillaume B, Van Maldergem L. Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J Inherit Metab Dis. 2004;27(4):499-505.

Hoffmann B, Keshav S. Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment. Acta Paediatr Suppl. 2007 Apr;96(455):84-6.

Bierer G, Balfe D, Wilcox WR, Mosenifar Z. Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease. J Inherit Metab Dis. 2006 Aug;29(4):572-9.

Kim W, Pyeritz RE, Bernhardt BA, Casey M, Litt HI. Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy. Am J Med Genet A. 2007 Feb 15;143(4):377-81.

Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M, Finkel R, Packman S, Bichet DG, Warnock DG, Desnick RJ. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med. 2007 Jan 16;146(2):77-86.

Beck M. Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin Biol Ther. 2009 Feb;9(2):255-61.

Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims 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 Sep;8(9):539-48.

Lubanda JC, Anijalg E, Bzdúch V, Thurberg BL, Bénichou B, Tylki-Szymanska A. Evaluation of a low dose, after a standard therapeutic dose, of algasidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med. 2009 Apr;11(4):256-64.

Morel CF, Clarke JT. The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. Expert Opin Biol Ther. 2009 May;9(5):631-9.

Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, Desnick RJ, Germain DP. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004; 75:65-74.

Zarate YA, Patterson L, Yin H, Hopkin RJ. A case of minimal change disease in a Fabry patient. Pediatr Nephrol. 2009 Oct 30.

Ophthalmologic Manifestations

Iester M, Sodi A, Occella C, Vittone P. Ocular findings in Fabry disease. Contributions in Nephrol 2001; 136:260-262.

Pitz S, Grube-Einwald K, Renieri G, Reinke J. Subclinical optic neuropathy in Fabry disease. Ophthalmic Genet. 2009 Dec;30(4):165-71.

Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry. Genet Med. 2009 Nov;11(11):790-6.

Dermatologic Manifestations

Mohrenschlager M, Braun-Falco M,Ring J, Abeck D. Fabry disease: recognition and management of cutaneous manifestations. Amer J Clin Derm 2003; 4(3):189-196.

Auditory Manifestations

Keilmann A, Hajioff D, Ramaswami U; on behalf of the FOS Investigators. Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis. 2009 Oct 27.

Sakurai Y, Suzuki R, Yoshida R, Kojima H, Watanabe M, Manome Y, Ohashi T, Eto Y, Moriyama H. Inner ear pathology of alpha-galactosidase A deficient mice, a model of Fabry disease. Auris Nasus Larynx. 2009 Nov 8.

Biology

Park ES, Choi JO, Park JW, Lee MH, Park HY, Jung SC. Expression of genes and their responses to enzyme replacement therapy in a Fabry disease mouse model. Int J Mol Med. 2009 Sep;24(3):401-7.

Biochemistry

Benjamin ER, Flanagan JJ, Schilling A, Chang HH, Agarwal L, Katz E, Wu X, Pine C, Wustman B, Desnick RJ, Lockhart DJ, Valenzano KJ.The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis. 2009 Jun;32(3):424-40.

Guce AI, Clark NE, Salgado EN, Ivanen DR, Kulminskaya AA, Brumer H 3rd, Garman SC. The catalytic mechanism of human alpha-galactosidase. J Biol Chem. 2009 Nov 25.

Khanna R, Soska R, Lun Y, Feng J, Frascella M, Young B, Brignol N, Pellegrino L, Sitaraman SA, Desnick RJ, Benjamin ER, Lockhart DJ, Valenzano KJ.The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease. Mol Ther. 2009 Sep 22.

Okuda T, Furukawa K, Nakayama K.A novel, promoter-based, target-specific assay identifies 2-deoxy-D-glucose as an inhibitor of globotriaosylceramide biosynthesis. FEBS J. 2009 Sep;276(18):5191-202.

Shu L, Park JL, Byun J, Pennathur S, Kollmeyer J, Shayman JA. Decreased nitric oxide bioavailability in a mouse model of Fabry disease. J Am Soc Nephrol. 2009 Sep;20(9):1975-85.

Tajima Y, Kawashima I, Tsukimura T, Sugawara K, Kuroda M, Suzuki T, Togawa T, Chiba Y, Jigami Y, Ohno K, Fukushige T, Kanekura T, Itoh K, Ohashi T, Sakuraba H. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2009 Nov;85(5):569-80.

Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A. Functional studies of new GLA gene mutations leading to conformational fabry disease. Biochim Biophys Acta. 2009 Nov 24.

Krüger R, Bruns K, Grünhage S, Rossmann H, Reinke J, Beck M, Lackner KJ. Determination of globotriaosylceramide in plasma and urine by mass spectrometry. Clin Chem Lab Med. 2009 Dec 4.

Olivova P, van der Veen K, Cullen E, Rose M, Zhang XK, Sims KB, Keutzer J, Browning MF. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta. 2009 May;403(1-2):159-62.

Schaefer E, Mehta A, Gal A. Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey. Acta Paediatr Suppl. 2005 Mar;94(447):87-92; discussion 79.

Shabbeer J, Yasuda M, Luca E, Desnick RJ. Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the cl assical phenotype. Mol Genet Metab 2002; 76:23-30.

Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006 Jul;79(1):31-40.