The following clinical publications offer current data on lysosomal storage disorders. You can view abstracts of many of these publications (and order the complete text) at the PubMed website.

Clarke LA. Clinical diagnosis of lysosomal storage diseases. In: Applegarth DA, Dimmick JE, JG Hall. Organelle Diseases: Clinical Features, Diagnosis, Pathogenesis and Management. London: Chapman and Hall 1997; 37-71.

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

Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison's Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.

Hauser SL, Longo DL, eds. Harrison’s Principles of Internal Medicine. 14th ed. New York: McGraw-Hill; 1998; p. 2171-4.

Hensyl W, ed. Stedman’s Medical Dictionary. 25th ed. Baltimore: Williams & Wilkins; 1990; p. 885.

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.

Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA. 1999; 281: 249-254.

Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: The Metabolic Bases of Inherited Disease. New York: McGraw Hill, 2001; 3421-3452.

Nyhan W, Pinar O. Atlas of Metabolic Diseases. London: Chapman & Hall;1998 London. pp. 566-574.

Wenger, DA. Insights into the Diagnosis and Treatment of Lysosomal Storage Diseases. Arch Neurol; 60: 322-328.