239 related articles for article (PubMed ID: 25101867)
21. Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study.
Tanislav C; Kaps M; Rolfs A; Böttcher T; Lackner K; Paschke E; Mascher H; Laue M; Blaes F
Eur J Neurol; 2011 Apr; 18(4):631-6. PubMed ID: 20860754
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Japanese patients with Fabry disease predominantly showing cardiac and neurological manifestation with novel missense mutation: R220P.
Fukutomi M; Tanaka N; Uchinoumi H; Kanemoto M; Nakao F; Yamada J; Kamei T; Takenaka T; Fujii T
J Cardiol; 2013 Jul; 62(1):63-9. PubMed ID: 23608164
[TBL] [Abstract][Full Text] [Related]
24. Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Lenders M; Weidemann F; Kurschat C; Canaan-Kühl S; Duning T; Stypmann J; Schmitz B; Reiermann S; Krämer J; Blaschke D; Wanner C; Brand SM; Brand E
Orphanet J Rare Dis; 2016 May; 11(1):54. PubMed ID: 27142856
[TBL] [Abstract][Full Text] [Related]
25. The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
Palhais B; Dembic M; Sabaratnam R; Nielsen KS; Doktor TK; Bruun GH; Andresen BS
Mol Genet Metab; 2016 Nov; 119(3):258-269. PubMed ID: 27595546
[TBL] [Abstract][Full Text] [Related]
26. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P; Mastroianni Kirsztajn G; Motta FL; Martin RP; Turaça LT; Ferrer HLF; Gomes CP; Nicolicht P; Mara Marins M; Pessoa JG; Braga MC; D'Almeida V; Martins AM; Pesquero JB
Orphanet J Rare Dis; 2020 Jan; 15(1):30. PubMed ID: 31996269
[TBL] [Abstract][Full Text] [Related]
27. Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L; Malesci D; Fioravanti A; Bagordo G; Filippini A; Ficcadenti A; Manna R; Antuzzi D; Verrecchia E; Donati I; Mignani R; Cavicchi C; Guerrini R; Morrone A
Clin Chim Acta; 2018 Jun; 481():25-33. PubMed ID: 29476735
[TBL] [Abstract][Full Text] [Related]
28. X-inactivation in Fabry disease.
Elstein D; Schachamorov E; Beeri R; Altarescu G
Gene; 2012 Sep; 505(2):266-8. PubMed ID: 22710134
[TBL] [Abstract][Full Text] [Related]
29. Anderson-Fabry disease and the heart.
O'Mahony C; Elliott P
Prog Cardiovasc Dis; 2010; 52(4):326-35. PubMed ID: 20109602
[TBL] [Abstract][Full Text] [Related]
30. Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.
Song X; Xue S; Zhao J; Wu J
Int J Neurosci; 2017 Apr; 127(4):350-355. PubMed ID: 26981927
[TBL] [Abstract][Full Text] [Related]
31. Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
Okumiya T; Takenaka T; Ishii S; Kase R; Kamei S; Sakuraba H
Jpn J Hum Genet; 1996 Sep; 41(3):313-21. PubMed ID: 8996967
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
[TBL] [Abstract][Full Text] [Related]
34. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
Ortiz A; Cianciaruso B; Cizmarik M; Germain DP; Mignani R; Oliveira JP; Villalobos J; Vujkovac B; Waldek S; Wanner C; Warnock DG
Nephrol Dial Transplant; 2010 Mar; 25(3):769-75. PubMed ID: 19846394
[TBL] [Abstract][Full Text] [Related]
35. Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.
Brouns R; Sheorajpanday R; Braxel E; Eyskens F; Baker R; Hughes D; Mehta A; Timmerman T; Vincent MF; De Deyn PP
Clin Neurol Neurosurg; 2007 Jul; 109(6):479-84. PubMed ID: 17509753
[TBL] [Abstract][Full Text] [Related]
36. Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.
Dobrovolny R; Nazarenko I; Kim J; Doheny D; Desnick RJ
Hum Mutat; 2011 Jun; 32(6):688-95. PubMed ID: 21305660
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Identification and functional characterization of the first deep intronic GLA mutation (IVS4+1326C>T) causing renal variant of Fabry disease.
Dai X; Zong X; Pan X; Lu W; Jiang GR; Lin F
Orphanet J Rare Dis; 2022 Jun; 17(1):237. PubMed ID: 35725559
[TBL] [Abstract][Full Text] [Related]
39. Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.
Wakakuri H; Nakamura S; Utsumi K; Shimizu W; Yasutake M
Int Heart J; 2016 Sep; 57(5):637-9. PubMed ID: 27593536
[TBL] [Abstract][Full Text] [Related]
40. Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.
Kinoshita N; Hosomi N; Matsushima H; Nakamori M; Yagita Y; Yamawaki T; Torii T; Kitamura T; Sueda Y; Shimomura R; Araki M; Nezu T; Aoki S; Ishii S; Maruyama H; Matsumoto M; Maruyama H
J Stroke Cerebrovasc Dis; 2018 Dec; 27(12):3563-3569. PubMed ID: 30201457
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
