208 related articles for article (PubMed ID: 22710134)
21. Paraoxonase (PON1) gene polymorphisms in Fabry disease: correlation with renal disease.
Shemesh T; Whybra C; Delgado-Sanchez S; Beck M; Elstein D; Altarescu G
Nephron Clin Pract; 2010; 116(4):c289-93. PubMed ID: 20639675
[TBL] [Abstract][Full Text] [Related]
22. [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]
23. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Yasuda M; Shabbeer J; Benson SD; Maire I; Burnett RM; Desnick RJ
Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
[TBL] [Abstract][Full Text] [Related]
24. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females.
Renault NK; Dyack S; Dobson MJ; Costa T; Lam WL; Greer WL
Eur J Hum Genet; 2007 Jun; 15(6):628-37. PubMed ID: 17342157
[TBL] [Abstract][Full Text] [Related]
25. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
Chen CH; Shyu PW; Wu SJ; Sheu SS; Desnick RJ; Hsiao KJ
Hum Mutat; 1998; 11(4):328-30. PubMed ID: 9554750
[TBL] [Abstract][Full Text] [Related]
26. [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]
27. Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease.
Altarescu G; Chicco G; Whybra C; Delgado-Sanchez S; Sharon N; Beck M; Elstein D
J Inherit Metab Dis; 2008 Feb; 31(1):117-23. PubMed ID: 18172744
[TBL] [Abstract][Full Text] [Related]
28. [Neurological complications of Fabry-disease].
Vastagh I; Constantin T; Kéri A; Rudas G; Fekete G; Bereczki D
Ideggyogy Sz; 2011 Jan; 64(1-2):29-35. PubMed ID: 21428036
[TBL] [Abstract][Full Text] [Related]
29. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
Yoshimitsu M; Higuchi K; Miyata M; Devine S; Mattman A; Sirrs S; Medin JA; Tei C; Takenaka T
J Cardiol; 2011 May; 57(3):345-53. PubMed ID: 21333496
[TBL] [Abstract][Full Text] [Related]
30. Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.
Redonnet-Vernhet I; Ploos van Amstel JK; Jansen RP; Wevers RA; Salvayre R; Levade T
J Med Genet; 1996 Aug; 33(8):682-8. PubMed ID: 8863162
[TBL] [Abstract][Full Text] [Related]
31. Fabry disease in patients with end-stage renal failure: the potential benefits of screening.
Bekri S; Enica A; Ghafari T; Plaza G; Champenois I; Choukroun G; Unwin R; Jaeger P
Nephron Clin Pract; 2005; 101(1):c33-8. PubMed ID: 15886492
[TBL] [Abstract][Full Text] [Related]
32. Neurological manifestations of Fabry disease in female carriers.
Bird TD; Lagunoff D
Ann Neurol; 1978 Dec; 4(6):537-40. PubMed ID: 217299
[TBL] [Abstract][Full Text] [Related]
33. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
Garman SC; Garboczi DN
J Mol Biol; 2004 Mar; 337(2):319-35. PubMed ID: 15003450
[TBL] [Abstract][Full Text] [Related]
34. Two novel alpha-galactosidase A mutations causing Fabry disease: A missense mutation M11V in a heterozygote woman and a nonsense mutation R190X in a hemizygote man.
Celtikci B; Topçu M; Ozkara HA
Clin Biochem; 2011 Jul; 44(10-11):809-12. PubMed ID: 21569769
[TBL] [Abstract][Full Text] [Related]
35. Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A; Coll MJ; Chabás A
Hum Mutat; 2003 Sep; 22(3):258. PubMed ID: 12938095
[TBL] [Abstract][Full Text] [Related]
36. Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M; Sikora J; Magner M; Wiederlechnerová H; Černá A; Poupětová H; Štorkánova G; Mušálková D; Dostálová G; Goláň L; Linhart A; Dvořáková L
Am J Med Genet A; 2022 Jul; 188(7):1979-1989. PubMed ID: 35338595
[TBL] [Abstract][Full Text] [Related]
37. Clinical and molecular characterization of an extended family with Fabry disease.
Wattanasirichaigoon D; Svasti J; Cairns JR; Tangnararatchakit K; Visudtibhan A; Keeratichamroen S; Ngiwsara L; Khowsathit P; Onkoksoong T; Lekskul A; Mongkolsiri D; Jariengprasert C; Thawil C; Ruencharoen S
J Med Assoc Thai; 2006 Sep; 89(9):1528-35. PubMed ID: 17100396
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Froissart R; Guffon N; Vanier MT; Desnick RJ; Maire I
Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
[TBL] [Abstract][Full Text] [Related]
40. [Fabry-Anderson disease: current state of knowledge].
Vega-Vega O; Pérez-Gutiérrez A; Correa-Rotter R
Rev Invest Clin; 2011; 63(3):314-21. PubMed ID: 21888295
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
