| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| William R Wilcox, Maryam Banikazemi, Nathalie Guffon, Stephen Waldek, Philip Lee, Gabor E Linthorst, Robert J Desnick, Dominique P Germai. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. American journal of human genetics. vol 75. issue 1. 2004-07-20. PMID:15154115. |
elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant human alpha -galactosidase a (rh-alpha gala) replacement in patients with fabry disease. |
2004-07-20 |
2023-08-12 |
human |
| M Dütsch, H Marthol, B Stemper, M Brys, T Haendl, M J Hil. Small fiber dysfunction predominates in Fabry neuropathy. Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. vol 19. issue 6. 2003-02-25. PMID:12488789. |
fabry disease is an x-linked recessive disease with a reduction of lysosomal alpha galactosidase a and consecutive storage of glycolipids e.g., in the brain, kidney, skin, and nerve fibers. |
2003-02-25 |
2023-08-12 |
Not clear |
| F Derouiche, G Rodier, E Cohen, C Boulay, P Bronner, F Battagli. [Atypical phenotype of Fabry disease. Evidence of a new mutation]. Presse medicale (Paris, France : 1983). vol 29. issue 36. 2001-01-18. PMID:11149077. |
fabry disease is a lysosomal disease resulting from deficient alpha galactosidase a activity. |
2001-01-18 |
2023-08-12 |
Not clear |
| K Utsumi, K Itoh, R Kase, M Shimmoto, N Yamamoto, Y Katagiri, K Tanoue, M Kotani, T Ozawa, T Oguchi, H Sakurab. Urinary excretion of the vitronectin receptor (integrin alpha V beta 3) in patients with Fabry disease. Clinica chimica acta; international journal of clinical chemistry. vol 279. issue 1-2. 1999-05-04. PMID:10064118. |
urinary excretion of the vitronectin receptor (integrin alpha v beta 3) in patients with fabry disease. |
1999-05-04 |
2023-08-12 |
Not clear |
| K Utsumi, K Itoh, R Kase, M Shimmoto, N Yamamoto, Y Katagiri, K Tanoue, M Kotani, T Ozawa, T Oguchi, H Sakurab. Urinary excretion of the vitronectin receptor (integrin alpha V beta 3) in patients with Fabry disease. Clinica chimica acta; international journal of clinical chemistry. vol 279. issue 1-2. 1999-05-04. PMID:10064118. |
we examined the possibility that the vitronectin receptor (vnr, integrin alpha v beta 3), one of the integrins, is involved in the progression of the renal injury in fabry disease. |
1999-05-04 |
2023-08-12 |
Not clear |
| W Endre. Inherited metabolic diseases affecting the carrier. Journal of inherited metabolic disease. vol 20. issue 1. 1997-06-24. PMID:9061562. |
in the group of food-independent disorders, clinical features in carriers may be paraesthesias and corneal dystrophy in fabry disease, lens clouding in lowe syndrome, lung and/or liver diseases in alpha 1-antitrypsin deficiency, and renal stones in cystinuria type ii and iii. |
1997-06-24 |
2023-08-12 |
Not clear |
| T Ohshima, G J Murray, J W Nagle, J M Quirk, M H Kraus, N W Barton, R O Brady, A B Kulkarn. Structural organization and expression of the mouse gene encoding alpha-galactosidase A. Gene. vol 166. issue 2. 1996-02-12. PMID:8543175. |
fabry disease, an inhibited x-linked recessive human metabolic disorder, results from a mutation in the alpha gala gene at xq22. |
1996-02-12 |
2023-08-12 |
mouse |
| T Ohshima, G J Murray, J W Nagle, J M Quirk, M H Kraus, N W Barton, R O Brady, A B Kulkarn. Structural organization and expression of the mouse gene encoding alpha-galactosidase A. Gene. vol 166. issue 2. 1996-02-12. PMID:8543175. |
as a prerequisite for generating a mouse model of fabry disease by gene targeting, we have isolated and characterized the mouse alpha gala gene and cdna. |
1996-02-12 |
2023-08-12 |
mouse |