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7. A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease. Mirceva V; Hein R; Ring J; Möhrenschlager M Australas J Dermatol; 2010 Feb; 51(1):36-8. PubMed ID: 20148840 [TBL] [Abstract][Full Text] [Related]
8. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827 [TBL] [Abstract][Full Text] [Related]
9. An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Safyan R; Whybra C; Beck M; Elstein D; Altarescu G Eur Cytokine Netw; 2006 Dec; 17(4):271-5. PubMed ID: 17353161 [TBL] [Abstract][Full Text] [Related]
11. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1. Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ; J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670 [TBL] [Abstract][Full Text] [Related]
12. [Evaluation of patients with Fabry disease in Argentina]. AADELFA (Asociación Argentina de estudio de enfermedad de Fabry y otras enfermedades lisosomales) Medicina (B Aires); 2010; 70(1):37-43. PubMed ID: 20228022 [TBL] [Abstract][Full Text] [Related]
13. Heterozygote detection in Fabry disease utilizing multiple enzyme activities. Sheth KJ; Good TA; Murphy JV Am J Med Genet; 1981; 10(2):141-6. PubMed ID: 6274191 [TBL] [Abstract][Full Text] [Related]
14. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. Dobrovolny R; Dvorakova L; Ledvinova J; Magage S; Bultas J; Lubanda JC; Elleder M; Karetova D; Pavlikova M; Hrebicek M J Mol Med (Berl); 2005 Aug; 83(8):647-54. PubMed ID: 15806320 [TBL] [Abstract][Full Text] [Related]
15. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches. Germain DP; Poenaru L Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848 [TBL] [Abstract][Full Text] [Related]
17. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. Shabbeer J; Robinson M; Desnick RJ Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228 [TBL] [Abstract][Full Text] [Related]
18. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. Lee BH; Heo SH; Kim GH; Park JY; Kim WS; Kang DH; Choe KH; Kim WH; Yang SH; Yoo HW J Hum Genet; 2010 Aug; 55(8):512-7. PubMed ID: 20505683 [TBL] [Abstract][Full Text] [Related]
19. [Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease]. Sakuraba H Rinsho Byori; 1994 Jun; 42(6):628-35. PubMed ID: 7914243 [TBL] [Abstract][Full Text] [Related]
20. [Fabry disease: clinic and enzymatic diagnosis of homozygous and heterozygous. New therapeutic prospects]. Peces R; Olea T Nefrologia; 2002; 22(6):540-6. PubMed ID: 12516287 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]