G A Ashley
Overview
Explore the profile of G A Ashley including associated specialties, affiliations and a list of published articles.
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Articles
5
Citations
109
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Recent Articles
1.
Ashley G, Shabbeer J, Yasuda M, Eng C, Desnick R
J Hum Genet
. 2001 Apr;
46(4):192-6.
PMID: 11322659
Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase, alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular lesions...
2.
Topaloglu A, Ashley G, Tong B, Shabbeer J, Astrin K, Eng C, et al.
Mol Med
. 2000 Feb;
5(12):806-11.
PMID: 10666480
Background: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from the deficient activity of the lysosomal exoglycohydrolase alpha-galactosidase A (EC 3.2.1.22; alpha-Gal A). The nature of the molecular...
3.
Ashton-Prolla P, Ashley G, Giugliani R, Pires R, Desnick R, Eng C
Am J Med Genet
. 1999 Jun;
84(5):420-4.
PMID: 10360396
Fabry disease (FD) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). Affected males are reliably diagnosed by demonstration of deficient...
4.
Caggana M, Ashley G, Desnick R, Eng C
Am J Med Genet
. 1997 Aug;
71(3):329-35.
PMID: 9268104
Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism that results from the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A). A rapid, reliable, and universal...
5.
Eng C, Ashley G, Burgert T, Enriquez A, DSouza M, Desnick R
Mol Med
. 1997 Mar;
3(3):174-82.
PMID: 9100224
Background: Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene located at Xq22.1. To determine the nature and frequency of...