Fabry Disease Publications

Since its identification in 1898, there have been several hundred papers published on Fabry disease. The selected bibiography below includes selected full-text articles and Pubmed abstracts by specialty on Fabry disease. Copies of articles listed below can also be requested via email, mail, or fax:

^{Fabry Disease Selected Bibliography}

General Interest

Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774.

MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750-760.

MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet. 2001;38:769-775.

Peters FP, Sommer A, Vermeulen A, Cheriex EC, Kho TL. Fabry’s disease: a multidisciplinary disorder. Postgrad Med J. 1997;73:710-712.

Renal Complications

Grunfeld J, Chauveau D, Levy M. Anderson-Fabry disease: its place among other genetic causes of renal disease. J Am Soc Nephrol. 2002;13 Suppl 2:S126-129.

Grunfeld J, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis 2001;24 Suppl 2:71-74.

Meroni M, Sessa A, Battini G, Tazzari S, Torri Tarelli L. Kidney involvement in Anderson-Fabry disease. Contrib Nephrol. 1997;122:178-184.

Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis. 2001;24 Suppl 2:66-70.

Cardiac Complications

Goldman ME, Cantor R, Schwartz MF, Baker M, Desnick RJ. Echocardiographic abnormalities and disease severity in Fabry's disease. J Am Coll Cardiol. 1986;7:1157-1161.

Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001;24 Suppl 2:75-83; discussion 65.

Linhart A, Palecek T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. Am Heart J. 2000;139:1101-1108.

Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288-293.

Download PDF

von Scheidt W, Eng CM, Fitzmaurice TF, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med. 1991;324:395-399.

Neurological Complications

Grewal RP. Stroke in Fabry's disease. J Neurol. 1994;241:153-156.

Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain. 2000;84:361-365.

Download PDF

Morgan SH, Rudge P, Smith SJ, et al. The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency) -- investigation of symptomatic and presymptomatic patients. Q J Med. 1990;75:491-507.

Ophthalmologic Complications

Bao LL, Guo LL, Li SN, et al. A family with Fabry's disease. Ocular manifestations and transmission electron microscopic examination of a skin lesion biopsy. Chin Med J (Engl). 1990;103:134-141.

Lester M, Sodi A, Occella C, Vittone P. Ocular findings in Fabry's disease. Contrib Nephrol. 2001;136:260-262.

Vinals AF, Kenyon KR. Corneal manifestations of metabolic diseases. Int Ophthalmol Clin. 1998;38:141-153.

Dermatological Manifestations

Schiller PI, Itin PH. Angiokeratomas: an update. Dermatology. 1996;193:275-282.