- ►annals.org RJ Desnick, R Brady, J Barranger, AJ … - Annals of internal medicine, 2003 - Am Coll Physicians Fabry disease ( -galactosidase A deficiency) is an X-linked recessive lysosomal
storage disorder. Although the disease presents in childhood and culminates in
cardiac, cerebrovascular, and end-stage renal disease, diagnosis is often ... Cited by 249 - Related articles - BL Direct - All 7 versions
- ►fabry.org [PDF] CM Eng, N Guffon, WR Wilcox, DP Germain, P … - The New England journal of medicine, 2001 - nejm.highwire.org 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 ... Cited by 570 - Related articles - BL Direct - All 14 versions
S Nakao, C Kodama, T Takenaka, A Tanaka, Y … - Kidney international, 2003 - nefsg.org First Department of Internal Medicine, the Second Department of Internal
Medicine, First Department of Pathology, the Department of Dermatology, Faculty
of Medicine, Kagoshima University, Kagoshima, Japan; and Department of ... Cited by 128 - Related articles - View as HTML - BL Direct - All 9 versions
- ►bmj.com [PDF] KD MacDermot, A Holmes, AH Miners - British Medical Journal, 2001 - jmg.bmj.com E DITOR —Anderson-Fabry disease (AFD) is a sphingolipid storage disorder
resulting from the deficiency of the lysosomal enzyme -galactosidase. Unlike
most other lysosomal diseases, the inheritance is X linked. Disease ... Cited by 285 - Related articles - BL Direct - All 7 versions
- ►spread.it [PDF] R Schiffmann, JB Kopp, HA Austin III, S … - Jama, 2001 - Am Med Assoc You are seeing this message because your Web browser does not support basic Web
standards. Find out more about why this message is appearing and what you can do
to make your experience on this site better. ... Context Fabry disease is ... Cited by 582 - Related articles - BL Direct - All 9 versions
BL Thurberg, H Rennke, RB Colvin, S Dikman, … - Kidney international, 2002 - nature.com Fabry disease, a lysosomal storage disease caused by deficient lysosomal
-galactosidase A activity, is characterized by globotriaosylceramide (GL-3)
accumulation in multiple cell types, particularly the vasculature, leading ... Cited by 126 - Related articles - BL Direct - All 7 versions
MH Branton, R Schiffmann, SG Sabnis, GJ … - Medicine, 2002 - journals.lww.com Fabry disease is an X-linked sphingolipidosis caused by complete or partial
deficiency of the gly- cohydrolase -galactosidase A (-gal A) (4). The enzyme
deficiency results in accumulation of globo- triaosylceramide (Gb3, also ... Cited by 143 - Related articles - BL Direct - All 3 versions
- ►ahajournals.org F Weidemann, F Breunig, M Beer, J Sandstede, … - Circulation, 2003 - Am Heart Assoc Methods and Results— Sixteen patients with Fabry disease who were treated in
an open-label study with 1.0 mg/kg body weight of recombinant -Gal A (agalsidase
ß, Fabrazyme) were followed up for 12 months. Myocardial function was ... Cited by 170 - Related articles - BL Direct - All 5 versions
- ►bmj.com KD MacDermot, A Holmes, AH Miners - British Medical Journal, 2001 - jmg.bmj.com The clinical hallmark of AFD is neuropathic pain and the histopathological
findings of lipid accumulation suggest that the pain is the result of
degeneration of nerve fibres in the dorsal root ganglion cells with ... Cited by 281 - Related articles - BL Direct - All 11 versions
R Thadhani, M Wolf, ML West, M Tonelli, R … - Kidney international, 2002 - nature.com Using the United States Renal Disease System database, we first studied in
detail 42 Fabry patients who initiated dialysis between April 1995 (following
the introduction of the new detailed HCFA 2728 form) and July 1998. To ... Cited by 119 - Related articles - BL Direct - All 4 versions
