- ►annals.org [PDF] JTR Clarke - Annals of internal medicine, 2007 - Am Coll Physicians Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by
deficiency of the enzyme -galactosidase A, which re- sults in the accumulation
of the neutral glycosphingolipid globotri- aosylceramide (Gb3) in the walls ... Cited by 42 - Related articles - All 13 versions
M Low, K Nicholls, N Tubridy, P Hand, D … - Intern Med J, 2007 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 8 - Related articles - All 2 versions
CL Owens, SD Russell, MK Halushka - Human pathology, 2006 - Elsevier The well-described histologic and electron microscopic findings in Fabry disease
cardiomyopathy are hypertrophic vacuolated cells with electron dense concentric
lamellar bodies. We present altered findings in an endomyocardial biopsy ... Cited by 6 - Related articles - All 7 versions
C Auray-Blais, D Cyr, A Ntwari, ML West, J … - Molecular genetics and metabolism, 2008 - Elsevier Fabry disease is a complex, multisystemic and clinically heterogeneous disease,
in which the urinary excretion of globotriaosylceramide (Gb 3 ), the principal
substrate of the deficient enzyme, α-galactosidase A, is more prominent ... Cited by 17 - Related articles - All 2 versions
A Pisani, L Spinelli, M Sabbatini, MV … - American Journal of Kidney Diseases, 2005 - Elsevier Background: Fabry disease is a lysosomal storage disease resulting from
deficient α-galactosidase A (α-Gal A) activity. End-stage renal disease
generally occurs around the fourth decade of age, and dialysis therapy is a ... Cited by 33 - Related articles - All 3 versions
- ►nih.gov M Spada, S Pagliardini, M Yasuda, T Tukel, … - The American Journal of Human Genetics, 2006 - Elsevier The classic phenotype of Fabry disease, X-linked α-galactosidase A (α-Gal A)
deficiency, has an estimated incidence of 1 in 50,000 males. The recent
recognition of later-onset variants suggested that this treatable lysosomal ... Cited by 103 - Related articles - BL Direct - All 8 versions
C Auray-Blais, D Cyr, K Mills, R Giguere, R … - Journal of Inherited Metabolic Disease, 2007 - Springer J Inherit Metab Dis (2007) 30:106 DOI 10.1007/s10545-006-0444-3 ... Development
of a filter paper method potentially applicable ... C. Auray-Blais · D. Cyr ·
K. Mills · R. Gigu`ere · R. Drouin ... Received: 4 August 2006 / ... Cited by 13 - Related articles - BL Direct - All 3 versions
- ►physiology.org GHF Yam, N Bosshard, C Zuber, B Steinmann, … - American Journal of Physiology- Cell Physiology, 2006 - Am Physiological Soc Fabry disease is a lysosomal storage disorder caused by deficiency of
-galactosidase A ( -Gal A) resulting in lysosomal accumulation of
glycosphingolipid globotriosylceramide Gb3. Misfolded -Gal A variants can ... Cited by 46 - Related articles - BL Direct - All 2 versions
H Michels, E Mengel - Current Opinion in Rheumatology, 2008 - journals.lww.com Recent findings: Many relevant investigations are based on large lysosomal
storage disease registries. The steadily growing number of patients has resulted
in an increasingly accurate description of the natural history of the ... Cited by 4 - Related articles - BL Direct - All 2 versions
DA Hughes, PM Elliott, J Shah, J Zuckerman, … - British Medical Journal, 2007 - heart.bmj.com Online First articles must include the digital object identifier (DOIs) and date
of initial publication. establish publication priority; they are indexed by
PubMed from initial publication. Citations to may be posted when available ... Cited by 43 - Related articles - All 4 versions
