231 related articles for article (PubMed ID: 16899426)
1. Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5.
Brokalaki EI; Hentschke M; Grabbe S; Jansen T
Eur J Med Res; 2006 Jul; 11(7):306-8. PubMed ID: 16899426
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
Sawada K; Mizoguchi K; Hishida A; Kaneko E; Koide Y; Nishimura K; Kimura M
Clin Nephrol; 1996 May; 45(5):289-94. PubMed ID: 8738659
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Mutation of the alpha-galactosidase A gene in two unusual variations of Fabray's disease].
Beĭer EM; Kopishinskaia SV; Ploos van Amstel JK; Tsvetkova IV
Vopr Med Khim; 1999; 45(4):346-9. PubMed ID: 10547886
[TBL] [Abstract][Full Text] [Related]
6. New mutation in female patient with renal variant of Fabry disease and HIV.
Solis MA; Pascual B; Boscá M; Ramos V; Carda C; Monteagudo C; Torregrosa I; Pons S; Miguel A
J Nephrol; 2010; 23(2):231-3. PubMed ID: 20155722
[TBL] [Abstract][Full Text] [Related]
7. Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
László A; Török L; Raffai S; Török E; Sallay E; Endreffy E; Morvai L; van Amstel JK
Ideggyogy Sz; 2012 Jan; 65(1-2):35-9. PubMed ID: 22338844
[TBL] [Abstract][Full Text] [Related]
8. [Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy].
Jansen T; Brokalaki E; Hillen U; Hentschke M; Grabbe S
Dtsch Med Wochenschr; 2006 Jul; 131(28-29):1590-3. PubMed ID: 16823707
[TBL] [Abstract][Full Text] [Related]
9. Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease.
Huerva V; Martín M; Canto LM; Yagüe J
Cornea; 2008 Sep; 27(8):970-2. PubMed ID: 18724168
[TBL] [Abstract][Full Text] [Related]
10. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM; Desnick RJ
Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
[TBL] [Abstract][Full Text] [Related]
11. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E; Baron K; Widmer U; Deegan P; Neumann HP; Sunder-Plassmann G; Johansson JO; Whybra C; Ries M; Pastores GM; Mehta A; Beck M; Gal A
Hum Mutat; 2005 Apr; 25(4):412. PubMed ID: 15776423
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Molecular genetic analysis of a Chinese patient with Fabry disease.
Lam CW; Mak YT; Lo YM; Tong SF; To KF; Lai FM
Chin Med J (Engl); 2000 Feb; 113(2):186-8. PubMed ID: 11775551
[No Abstract] [Full Text] [Related]
14. A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
Choi JS; Kim CS; Park JW; Bae EH; Ma SK; Choi YD; Kim GH; Yoo HW; Kim SW
Ren Fail; 2012; 34(3):390-3. PubMed ID: 22260214
[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]
16. Five novel mutations in fourteen patients with Fabry Disease.
Rosenberg KM; Schiffmann R; Kaneski C; Brady RO; Sorensen SA; Hasholt L
Hum Mutat; 2000 Feb; 15(2):207-8. PubMed ID: 10649504
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
Verovnik F; Benko D; Vujkovac B; Linthorst GE
Eur J Hum Genet; 2004 Aug; 12(8):678-81. PubMed ID: 15162124
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]