- ►annals.org RJ Desnick, R Brady, J Barranger, AJ … - Annals of internal …, 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 253 - Related articles - BL Direct - All 7 versions
- ►fabry.org [PDF] CM Eng, N Guffon, WR Wilcox, DP Germain, … - The New England …, 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 patients ... Cited by 579 - 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 Human ... Cited by 130 - 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 290 - Related articles - BL Direct - All 7 versions
- ►spread.it [PDF] R Schiffmann, JB Kopp, HA Austin III, S Sabnis, DF … - 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 ... Cited by 590 - Related articles - BL Direct - All 9 versions
BL Thurberg, H Rennke, RB Colvin, S Dikman, RE … - 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 to end ... Cited by 130 - Related articles - BL Direct - All 7 versions
MH Branton, R Schiffmann, SG Sabnis, GJ Murray, JM … - 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 known ... Cited by 146 - Related articles - BL Direct - All 3 versions
- ►ahajournals.org F Weidemann, F Breunig, M Beer, J Sandstede, O … - 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 172 - 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 associated ... Cited by 286 - Related articles - BL Direct - All 11 versions
R Thadhani, M Wolf, ML West, M Tonelli, R Ruthazer, … - 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 examine ... Cited by 119 - Related articles - BL Direct - All 4 versions
