FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 345:9-16 July 5, 2001 Number 1 Next

Safety and Efficacy of Recombinant Human -Galactosidase A Replacement Therapy in Fabry's Disease

	Full Text PDF Editorial by Gahl, W. A. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background Fabry's disease, lysosomal -galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease of the kidneys, heart, and brain.

Methods We evaluated the safety and effectiveness of recombinant -galactosidase A in a multicenter, randomized, placebo-controlled, double-blind study of 58 patients who were treated every 2 weeks for 20 weeks. Thereafter, all patients received recombinant -galactosidase A in an open-label extension study. The primary efficacy end point was the percentage of patients in whom renal microvascular endothelial deposits of globotriaosylceramide were cleared (reduced to normal or near-normal levels). We also evaluated the histologic clearance of microvascular endothelial deposits of globotriaosylceramide in the endomyocardium and skin, as well as changes in the level of pain and the quality of life.

Results In the double-blind study, 20 of the 29 patients in the recombinant -galactosidase A group (69 percent) had no microvascular endothelial deposits of globotriaosylceramide after 20 weeks, as compared with none of the 29 patients in the placebo group (P<0.001). Patients in the recombinant -galactosidase A group also had decreased microvascular endothelial deposits of globotriaosylceramide in the skin (P<0.001) and heart (P<0.001). Plasma levels of globotriaosylceramide were directly correlated with clearance of the microvascular deposits. After six months of open-label therapy, all patients in the former placebo group and 98 percent of patients in the former recombinant -galactosidase A group who had biopsies had clearance of microvascular endothelial deposits of globotriaosylceramide. Mild-to-moderate infusion reactions (i.e., rigors and fever) were more common in the recombinant -galactosidase A group than in the placebo group.

Conclusions Recombinant -galactosidase A replacement therapy cleared microvascular endothelial deposits of globotriaosylceramide from the kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief clinical manifestations of this disease.

Source Information

From the Mount Sinai School of Medicine, New York (C.M.E., R.J.D.); Hôpital Edouard Herriot, Lyons, France (N.G.); Cedars–Sinai Burns and Allen Research Institute, UCLA School of Medicine, Los Angeles (W.R.W.); Hôpital Européen Georges Pompidou, Paris (D.P.G.); University College London Hospitals, London (P.L.); Hope Hospital, Salford, Manchester, United Kingdom (S.W.); Beth Israel Deaconess Medical Center, Boston (L.C.); and Academisch Medisch Centrum, Amsterdam (G.E.L.).

Address reprint requests to Dr. Desnick at the Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, Fifth Ave. at 100th St., New York, NY 10029, or at rjd.fabry{at}mssm.edu.

Full Text of this Article

This article has been cited by other articles:

• De Schoenmakere, G., Poppe, B., Wuyts, B., Claes, K., Cassiman, D., Maes, B., Verbeelen, D., Vanholder, R., Kuypers, D. R., Lameire, N., De Paepe, A., Terryn, W. (2008). Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. Nephrol Dial Transplant 0: gfn370v1-gfn370 [Abstract] [Full Text]  
• Lavigne, M. D., Yates, L., Coxhead, P., Gorecki, D. C. (2008). Nuclear-targeted chimeric vector enhancing nonviral gene transfer into skeletal muscle of Fabry mice in vivo. FASEB J. 22: 2097-2107 [Abstract] [Full Text]  
• Linthorst, G. E., Poorthuis, B. J.H.M., Hollak, C. E.M. (2008). Enzyme Activity for Determination of Presence of Fabry Disease in Women Results in 40% False-Negative Results. J Am Coll Cardiol 51: 2082-2082 [Full Text]  
• Ortiz, A., Oliveira, J. P., Waldek, S., Warnock, D. G., Cianciaruso, B., Wanner, C., on behalf of the Fabry Registry, (2008). Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transplant 23: 1600-1607 [Abstract] [Full Text]  
• Joshi, S. B., Ahmar, W., Lee, G., Aggarwal, A. (2008). Fabry's disease presenting as ventricular tachycardia and Left Ventricular 'Hypertrophy'. Eur J Echocardiogr 0: jen132v1-3 [Abstract] [Full Text]  
• Aerts, J. M., Groener, J. E., Kuiper, S., Donker-Koopman, W. E., Strijland, A., Ottenhoff, R., van Roomen, C., Mirzaian, M., Wijburg, F. A., Linthorst, G. E., Vedder, A. C., Rombach, S. M., Cox-Brinkman, J., Somerharju, P., Boot, R. G., Hollak, C. E., Brady, R. O., Poorthuis, B. J. (2008). Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci. USA 105: 2812-2817 [Abstract] [Full Text]  
• Linhart, A. (2008). Treatment of Anderson Fabry disease. Heart 94: 138-139 [Full Text]  
• Barbey, F., Lidove, O., Schwarting, A. (2008). Fabry nephropathy: 5 years of enzyme replacement therapy--a short review. NDT Plus 1: 11-19 [Full Text]  
• Hughes, D A, Elliott, P M, Shah, J, Zuckerman, J, Coghlan, G, Brookes, J, Mehta, A B (2008). Effects of enzyme replacement therapy on the cardiomyopathy of Anderson Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 94: 153-158 [Abstract] [Full Text]  
• Terryn, W., Poppe, B., Wuyts, B., Claes, K., Maes, B., Verbeelen, D., Vanholder, R., De Boeck, K., Lameire, N., De Paepe, A., De Schoenmakere, G. (2008). Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population. Nephrol Dial Transplant 23: 294-300 [Abstract] [Full Text]  
• Andrade, J., Waters, P. J., Singh, R. S., Levin, A., Toh, B.-C., Vallance, H. D., Sirrs, S. (2008). Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma {alpha}-Galactosidase Assay as a Screening Test. CJASN 3: 139-145 [Abstract] [Full Text]  
• Ackerman, M. J., Landstrom, A. P. (2007). Detection of Subclinical Fabry Disease in Patients Presenting With Hypertrophic Cardiomyopathy. J Am Coll Cardiol 50: 2404-2405 [Full Text]  
• Ries, M., Clarke, J. T., Whybra, C., Mehta, A., Loveday, K. S., Brady, R. O., Beck, M., Schiffmann, R. (2007). Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents. J Clin Pharmacol 47: 1222-1230 [Abstract] [Full Text]  
• Tahir, H., Jackson, L. L., Warnock, D. G. (2007). Antiproteinuric Therapy and Fabry Nephropathy: Sustained Reduction of Proteinuria in Patients Receiving Enzyme Replacement Therapy with Agalsidase-beta. J. Am. Soc. Nephrol. 18: 2609-2617 [Full Text]  
• Wanner, C., Breunig, F. (2007). Fabry Nephropathy and the Case for Adjunctive Renal Therapy. J. Am. Soc. Nephrol. 18: 2426-2428 [Full Text]  
• Pastores, G. M., Boyd, E., Crandall, K., Whelan, A., Piersall, L., Barnett, N. (2007). Safety and pharmacokinetics of agalsidase alfa in patients with Fabry disease and end-stage renal disease. Nephrol Dial Transplant 22: 1920-1925 [Abstract] [Full Text]  
• Germain, D. P., Waldek, S., Banikazemi, M., Bushinsky, D. A., Charrow, J., Desnick, R. J., Lee, P., Loew, T., Vedder, A. C., Abichandani, R., Wilcox, W. R., Guffon, N. (2007). Sustained, Long-Term Renal Stabilization After 54 Months of Agalsidase beta Therapy in Patients with Fabry Disease. J. Am. Soc. Nephrol. 18: 1547-1557 [Abstract] [Full Text]  
• Schiffmann, R., Askari, H., Timmons, M., Robinson, C., Benko, W., Brady, R. O., Ries, M. (2007). Weekly Enzyme Replacement Therapy May Slow Decline of Renal Function in Patients with Fabry Disease Who Are on Long-Term Biweekly Dosing. J. Am. Soc. Nephrol. 18: 1576-1583 [Abstract] [Full Text]  
• Warnock, D. G. (2007). Enzyme Replacement Therapy and Fabry Kidney Disease: Quo Vadis?. J. Am. Soc. Nephrol. 18: 1368-1370 [Full Text]  
• Linhart, A., Elliott, P. M (2007). The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93: 528-535 [Full Text]  
• Clarke, J. T.R. (2007). Narrative Review: Fabry Disease. ANN INTERN MED 146: 425-433 [Abstract] [Full Text]  
• Camici, P. G., Crea, F. (2007). Coronary Microvascular Dysfunction. NEJM 356: 830-840 [Full Text]  
• Moore, D. F., Krokhin, O. V., Beavis, R. C., Ries, M., Robinson, C., Goldin, E., Brady, R. O., Wilkins, J. A., Schiffmann, R. (2007). Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities. Proc. Natl. Acad. Sci. USA 104: 2873-2878 [Abstract] [Full Text]  
• Banikazemi, M., Bultas, J., Waldek, S., Wilcox, W. R., Whitley, C. B., McDonald, M., Finkel, R., Packman, S., Bichet, D. G., Warnock, D. G., Desnick, R. J., for the Fabry Disease Clinical Trial Study Group*, (2007). Agalsidase-Beta Therapy for Advanced Fabry Disease: A Randomized Trial. ANN INTERN MED 146: 77-86 [Abstract] [Full Text]  
• Schiffmann, R. (2007). Enzyme Replacement in Fabry Disease: The Essence Is in the Kidney. ANN INTERN MED 146: 142-144 [Full Text]  
• Merta, M., Reiterova, J., Ledvinova, J., Poupetova, H., Dobrovolny, R., Rysava, R., Maixnerova, D., Bultas, J., Motan, J., Slivkova, J., Sobotova, D., Smrzova, J., Tesar, V. (2007). A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant 22: 179-186 [Abstract] [Full Text]  
• Ries, M., Clarke, J. T.R., Whybra, C., Timmons, M., Robinson, C., Schlaggar, B. L., Pastores, G., Lien, Y. H., Kampmann, C., Brady, R. O., Beck, M., Schiffmann, R. (2006). Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease. Pediatrics 118: 924-932 [Abstract] [Full Text]  
• Goldstein, L. B., Adams, R., Alberts, M. J., Appel, L. J., Brass, L. M., Bushnell, C. D., Culebras, A., DeGraba, T. J., Gorelick, P. B., Guyton, J. R., Hart, R. G., Howard, G., Kelly-Hayes, M., Nixon, J.V., Sacco, R. L. (2006). Primary Prevention of Ischemic Stroke: A Guideline From the American Heart Association/American Stroke Association Stroke Council: Cosponsored by the Atherosclerotic Peripheral Vascular Disease Interdisciplinary Working Group; Cardiovascular Nursing Council; Clinical Cardiology Council; Nutrition, Physical Activity, and Metabolism Council; and the Quality of Care and Outcomes Research Interdisciplinary Working Group: The American Academy of Neurology affirms the value of this guideline.. Circulation 113: e873-e923 [Abstract] [Full Text]  
• Goldstein, L. B., Adams, R., Alberts, M. J., Appel, L. J., Brass, L. M., Bushnell, C. D., Culebras, A., DeGraba, T. J., Gorelick, P. B., Guyton, J. R., Hart, R. G., Howard, G., Kelly-Hayes, M., Nixon, J.V., Sacco, R. L. (2006). Primary Prevention of Ischemic Stroke: A Guideline From the American Heart Association/American Stroke Association Stroke Council: Cosponsored by the Atherosclerotic Peripheral Vascular Disease Interdisciplinary Working Group; Cardiovascular Nursing Council; Clinical Cardiology Council; Nutrition, Physical Activity, and Metabolism Council; and the Quality of Care and Outcomes Research Interdisciplinary Working Group: The American Academy of Neurology affirms the value of this guideline.. Stroke 37: 1583-1633 [Abstract] [Full Text]  
• Pieroni, M., Chimenti, C., De Cobelli, F., Morgante, E., Del Maschio, A., Gaudio, C., Russo, M. A., Frustaci, A. (2006). Fabry's Disease Cardiomyopathy: Echocardiographic Detection of Endomyocardial Glycosphingolipid Compartmentalization. J Am Coll Cardiol 47: 1663-1671 [Abstract] [Full Text]  
• Oheda, Y., Kotani, M., Murata, M., Sakuraba, H., Kadota, Y., Tatano, Y., Kuwahara, J., Itoh, K. (2006). Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement. Glycobiology 16: 271-280 [Abstract] [Full Text]  
• Deegan, P B, Baehner, A F, Barba Romero, M-A, Hughes, D A, Kampmann, C, Beck, M, on behalf of the European FOS Investigators, (2006). Natural history of Fabry disease in females in the Fabry Outcome Survey. J. Med. Genet. 43: 347-352 [Abstract] [Full Text]  
• Nance, C. S., Klein, C. J., Banikazemi, M., Dikman, S. H., Phelps, R. G., McArthur, J. C., Rodriguez, M., Desnick, R. J. (2006). Later-Onset Fabry Disease: An Adult Variant Presenting With the Cramp-Fasciculation Syndrome.. Arch Neurol 63: 453-457 [Abstract] [Full Text]  
• Elliott, P M, Kindler, H, Shah, J S, Sachdev, B, Rimoldi, O E, Thaman, R, Tome, M T, McKenna, W J, Lee, P, Camici, P G (2006). Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with {alpha} galactosidase A. Heart 92: 357-360 [Abstract] [Full Text]  
• Schiffmann, R., Ries, M., Timmons, M., Flaherty, J. T., Brady, R. O. (2006). Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21: 345-354 [Abstract] [Full Text]  
• Linthorst, G. E., Vedder, A. C., Ormel, E. E., Aerts, J. M. F. G., Hollak, C. E. M. (2006). Home treatment for Fabry disease: practice guidelines based on 3 years experience in The Netherlands. Nephrol Dial Transplant 21: 355-360 [Abstract] [Full Text]  
• Joppi, R., Bertele', V., Garattini, S. (2005). Disappointing biotech. BMJ 331: 895-897 [Full Text]  
• De Backer, J., Matthys, D., Gillebert, T.C., De Paepe, A., De Sutter, J. (2005). The use of Tissue Doppler Imaging for the assessment of changes in myocardial structure and function in inherited cardiomyopathies. Eur J Echocardiogr 6: 243-250 [Abstract] [Full Text]  
• Weidemann, F., Breunig, F., Beer, M., Sandstede, J., Stork, S., Voelker, W., Ertl, G., Knoll, A., Wanner, C., Strotmann, J. M. (2005). The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 26: 1221-1227 [Abstract] [Full Text]  
• Fuller, M., Sharp, P. C., Rozaklis, T., Whitfield, P. D., Blacklock, D., Hopwood, J. J., Meikle, P. J. (2005). Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes. Clin. Chem. 51: 688-694 [Abstract] [Full Text]  
• Ries, M., Gupta, S., Moore, D. F., Sachdev, V., Quirk, J. M., Murray, G. J., Rosing, D. R., Robinson, C., Schaefer, E., Gal, A., Dambrosia, J. M., Garman, S. C., Brady, R. O., Schiffmann, R. (2005). Pediatric Fabry Disease. Pediatrics 115: e344-e355 [Abstract] [Full Text]  
• Roddy, T. P., Nelson, B. C., Sung, C. C.C., Araghi, S., Wilkens, D., Zhang, X. K., Thomas, J. J., Richards, S. M. (2005). Liquid Chromatography-Tandem Mass Spectrometry Quantification of Globotriaosylceramide in Plasma for Long-Term Monitoring of Fabry Patients Treated with Enzyme Replacement Therapy. Clin. Chem. 51: 237-240 [Full Text]  
• Larralde, M., Boggio, P., Amartino, H., Chamoles, N. (2004). Fabry Disease: A Study of 6 Hemizygous Men and 5 Heterozygous Women With Emphasis on Dermatologic Manifestations. Arch Dermatol 140: 1440-1446 [Abstract] [Full Text]  
• Mohrenschlager, M., Henkel, V., Ring, J. (2004). Fabry Disease: More Than Angiokeratomas. Arch Dermatol 140: 1526-1528 [Full Text]  
• Yoshimitsu, M., Sato, T., Tao, K., Walia, J. S., Rasaiah, V. I., Sleep, G. T., Murray, G. J., Poeppl, A. G., Underwood, J., West, L., Brady, R. O., Medin, J. A. (2004). Bioluminescent imaging of a marking transgene and correction of Fabry mice by neonatal injection of recombinant lentiviral vectors. Proc. Natl. Acad. Sci. USA 101: 16909-16914 [Abstract] [Full Text]  
• Fuller, M., Lovejoy, M., Brooks, D. A., Harkin, M. L., Hopwood, J. J., Meikle, P. J. (2004). Immunoquantification of {alpha}-Galactosidase: Evaluation for the Diagnosis of Fabry Disease. Clin. Chem. 50: 1979-1985 [Abstract] [Full Text]  
• Hunley, T. E., Corzo, D., Dudek, M., Kishnani, P., Amalfitano, A., Chen, Y.-T., Richards, S. M., Phillips, J. A. III, Fogo, A. B., Tiller, G. E. (2004). Nephrotic Syndrome Complicating {alpha}-Glucosidase Replacement Therapy for Pompe Disease. Pediatrics 114: e532-e535 [Abstract] [Full Text]  
• Chimenti, C., Pieroni, M., Morgante, E., Antuzzi, D., Russo, A., Russo, M. A., Maseri, A., Frustaci, A. (2004). Prevalence of Fabry Disease in Female Patients With Late-Onset Hypertrophic Cardiomyopathy. Circulation 110: 1047-1053 [Abstract] [Full Text]  
• Rucker, M., Fraites, T. J. Jr, Porvasnik, S. L., Lewis, M. A., Zolotukhin, I., Cloutier, D. A., Byrne, B. J. (2004). Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease. Development 131: 3007-3019 [Abstract] [Full Text]  
• Kotanko, P., Kramar, R., Devrnja, D., Paschke, E., Voigtlander, T., Auinger, M., Demmelbauer, K., Lorenz, M., Hauser, A.-C., Kofler, H.-J., Lhotta, K., Neyer, U., Pronai, W., Wallner, M., Wieser, C., Wiesholzer, M., Zodl, H., Fodinger, M., Sunder-Plassmann, G. (2004). Results of a Nationwide Screening for Anderson-Fabry Disease among Dialysis Patients. J. Am. Soc. Nephrol. 15: 1323-1329 [Abstract] [Full Text]  
• Van den Hout, J. M.P., Kamphoven, J. H.J., Winkel, L. P.F., Arts, W. F.M., Klerk, J. B.C. D., Loonen, M. C. B., Vulto, A. G., Cromme-Dijkhuis, A., Weisglas-Kuperus, N., Hop, W., Hirtum, H. V., Diggelen, O. P. V., Boer, M., Kroos, M. A., Doorn, P. A. V., Voort, E. V. d., Sibbles, B., Corven, E. J.J.M. V., Brakenhoff, J. P.J., Hove, J. V., Smeitink, J. A.M., Jong, G. d., Reuser, A. J.J., Ploeg, A. T. V. d. (2004). Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human {alpha}-Glucosidase From Milk. Pediatrics 113: e448-e457 [Abstract] [Full Text]  
• Hilz, M. J., Brys, M., Marthol, H., Stemper, B., Dutsch, M. (2004). Enzyme replacement therapy improves function of C-, A{delta}-, and A{beta}-nerve fibers in Fabry neuropathy. Neurology 62: 1066-1072 [Abstract] [Full Text]  
• Moon, J. C.C., Sachdev, B., Elkington, A. G., McKenna, W. J., Mehta, A., Pennell, D. J., Leed, P. J., Elliott, P. M. (2003). Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease: Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24: 2151-2155 [Abstract] [Full Text]  
• Weidemann, F., Breunig, F., Beer, M., Sandstede, J., Turschner, O., Voelker, W., Ertl, G., Knoll, A., Wanner, C., Strotmann, J. M. (2003). Improvement of Cardiac Function During Enzyme Replacement Therapy in Patients With Fabry Disease: A Prospective Strain Rate Imaging Study. Circulation 108: 1299-1301 [Abstract] [Full Text]  
• Mehta, A. B, Lewis, S., Laverey, C. (2003). Treatment of lysosomal storage disorders. BMJ 327: 462-463 [Full Text]  
• Linthorst, G. E., Hollak, C. E. M., Korevaar, J. C., van Manen, J. G., Aerts, J. M. F. G., Boeschoten, E. W. (2003). {alpha}-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 18: 1581-1584 [Abstract] [Full Text]  
• Linthorst, G. E., Hollak, C. E. M., Korevaar, J. C., van Manen, J. G., Aerts, J. M. F. G., Boeschoten, E. W. (2003). {alpha}-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease. Nephrol Dial Transplant 18: 1581-1584 [Abstract] [Full Text]  
• Nagueh, S F (2003). Fabry disease. Heart 89: 819-820 [Full Text]  
• Morrone, A, Cavicchi, C, Bardelli, T, Antuzzi, D, Parini, R, Di Rocco, M, Feriozzi, S, Gabrielli, O, Barone, R, Pistone, G, Spisni, C, Ricci, R, Zammarchi, E (2003). Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers. J. Med. Genet. 40: e103-103 [Full Text]  
• Takanashi, J.-i., Barkovich, A. J., Dillon, W. P., Sherr, E. H., Hart, K. A., Packman, S. (2003). T1 Hyperintensity in the Pulvinar: Key Imaging Feature for Diagnosis of Fabry Disease. Am. J. Neuroradiol. 24: 916-921 [Abstract] [Full Text]  
• Pieroni, M., Chimenti, C., Ricci, R., Sale, P., Russo, M. A., Frustaci, A. (2003). Early Detection of Fabry Cardiomyopathy by Tissue Doppler Imaging. Circulation 107: 1978-1984 [Abstract] [Full Text]  
• Lee, K., Jin, X., Zhang, K., Copertino, L., Andrews, L., Baker-Malcolm, J., Geagan, L., Qiu, H., Seiger, K., Barngrover, D., McPherson, J. M., Edmunds, T. (2003). A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13: 305-313 [Abstract] [Full Text]  
• Waldek, S. (2003). PR Interval and the Response to Enzyme-Replacement Therapy for Fabry's Disease. NEJM 348: 1186-1187 [Full Text]  
• Park, J., Murray, G. J., Limaye, A., Quirk, J. M., Gelderman, M. P., Brady, R. O., Qasba, P. (2003). Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer. Proc. Natl. Acad. Sci. USA 100: 3450-3454 [Abstract] [Full Text]  
• Wenger, D. A., Coppola, S., Liu, S.-L. (2003). Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases. Arch Neurol 60: 322-328 [Abstract] [Full Text]  
• Desnick, R. J., Brady, R., Barranger, J., Collins, A. J., Germain, D. P., Goldman, M., Grabowski, G., Packman, S., Wilcox, W. R. (2003). Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy. ANN INTERN MED 138: 338-346 [Abstract] [Full Text]  
• Eitzman, D. T., Bodary, P. F., Shen, Y., Khairallah, C. G., Wild, S. R., Abe, A., Shaffer-Hartman, J., Shayman, J. A. (2003). Fabry Disease in Mice Is Associated With Age-Dependent Susceptibility to Vascular Thrombosis. J. Am. Soc. Nephrol. 14: 298-302 [Abstract] [Full Text]  
• Breunig, F., Wanner, C. (2003). Enzyme replacement therapy for Fabry disease: proving the clinical benefit. Nephrol Dial Transplant 18: 7-9 [Full Text]  
• De Schoenmakere, G., Chauveau, D., Grunfeld, J.-P. (2003). Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function. Nephrol Dial Transplant 18: 33-35 [Abstract] [Full Text]  
• Kingdon, E J, Holt, S G, Burns, A (2002). Renal involvement in an Anderson-Fabry heterozygote. Postgrad. Med. J. 78: 759-759 [Full Text]  
• Takahashi, H., Hirai, Y., Migita, M., Seino, Y., Fukuda, Y., Sakuraba, H., Kase, R., Kobayashi, T., Hashimoto, Y., Shimada, T. (2002). Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer. Proc. Natl. Acad. Sci. USA 99: 13777-13782 [Abstract] [Full Text]  
• MEHTA, A. (2002). New developments in the management of Anderson-Fabry disease. QJM 95: 647-653 [Abstract] [Full Text]  
• Ponder, K. P., Melniczek, J. R., Xu, L., Weil, M. A., O'Malley, T. M., O'Donnell, P. A., Knox, V. W., Aguirre, G. D., Mazrier, H., Ellinwood, N. M., Sleeper, M., Maguire, A. M., Volk, S. W., Mango, R. L., Zweigle, J., Wolfe, J. H., Haskins, M. E. (2002). From the Cover: Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc. Natl. Acad. Sci. USA 99: 13102-13107 [Abstract] [Full Text]  
• Alroy, J., Sabnis, S., Kopp, J. B. (2002). Renal Pathology in Fabry Disease. J. Am. Soc. Nephrol. 13: S134-138 [Full Text]  
• Branton, M., Schiffmann, R., Kopp, J. B. (2002). Natural History and Treatment of Renal Involvement in Fabry Disease. J. Am. Soc. Nephrol. 13: S139-143 [Full Text]  
• Kampmann, C., Baehner, F., Ries, M., Beck, M. (2002). Cardiac Involvement in Anderson-Fabry Disease. J. Am. Soc. Nephrol. 13: S147-149 [Full Text]  
• Sly, W. S., Vogler, C. (2002). Brain-directed gene therapy for lysosomal storage disease: Going well beyond the blood- brain barrier. Proc. Natl. Acad. Sci. USA 99: 5760-5762 [Full Text]  
• Frustaci, A., Pieroni, M., Chimenti, C. (2002). Late-onset primary LVH HCM versus cardiac fabry variant. J Am Coll Cardiol 39: 1405-1406 [Full Text]  
• Sachdev, B., Takenaka, T., Teraguchi, H., Tei, C., Lee, P., McKenna, W.J., Elliott, P.M. (2002). Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy. Circulation 105: 1407-1411 [Abstract] [Full Text]  
• Sands, M. S., Vogler, C. A., Ohlemiller, K. K., Roberts, M. S., Grubb, J. H., Levy, B., Sly, W. S. (2001). Biodistribution, Kinetics, and Efficacy of Highly Phosphorylated and Non-phosphorylated beta -Glucuronidase in the Murine Model of Mucopolysaccharidosis VII. J. Biol. Chem. 276: 43160-43165 [Abstract] [Full Text]  
• Du, H., Schiavi, S., Levine, M., Mishra, J., Heur, M., Grabowski, G. A. (2001). Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Genet 10: 1639-1648 [Abstract] [Full Text]  
• Frustaci, A., Chimenti, C., Ricci, R., Natale, L., Russo, M. A., Pieroni, M., Eng, C. M., Desnick, R. J. (2001). Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy. NEJM 345: 25-32 [Full Text]  
• Gahl, W. A. (2001). New Therapies for Fabry's Disease. NEJM 345: 55-57 [Full Text]