95 related articles for article (PubMed ID: 10090526)
1. The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
Beyer EM; Karpova EA; Udalova OV; Ploos van Amstel JK; van Diggelen OP; Tsvetkova IV
Clin Chim Acta; 1999 Feb; 280(1-2):81-9. PubMed ID: 10090526
[TBL] [Abstract][Full Text] [Related]
2. [Biochemical study of unusual cases of Fabry disease].
Beĭer EM; Karpova EA; Udalova OV; Tsvetkova IV
Vopr Med Khim; 1998; 44(5):494-500. PubMed ID: 9916266
[TBL] [Abstract][Full Text] [Related]
3. A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations.
Kimura K; Sato-Matsumura KC; Nakamura H; Onodera Y; Morita K; Enami N; Shougase T; Ohsaki T; Kato M; Takahashi T; Yamaguchi Y; Shimizu H
Br J Dermatol; 2002 Sep; 147(3):545-8. PubMed ID: 12207598
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
Konoshita T; Mutoh H; Yokoi T; Koni I; Miyamori I; Mabuchi H
Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
[TBL] [Abstract][Full Text] [Related]
6. A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
Miyazaki T; Kajita M; Ohmori S; Mizutani N; Niwa T; Murata Y; Seo H
Hum Mutat; 1998; Suppl 1():S139-40. PubMed ID: 9452068
[No Abstract] [Full Text] [Related]
7. Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Yang CC; Lai LW; Whitehair O; Hwu WL; Chiang SC; Lien YH
Clin Genet; 2003 Mar; 63(3):205-9. PubMed ID: 12694230
[TBL] [Abstract][Full Text] [Related]
8. A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders.
Maki N; Komatsuda A; Wakui H; Oyama Y; Kodama T; Ohtani H; Kigawa A; Aiba N; Imai H; Motegi M; Yamaguchi A; Sawada K
Clin Nephrol; 2004 Mar; 61(3):185-90. PubMed ID: 15077869
[TBL] [Abstract][Full Text] [Related]
9. Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Chien YH
Hum Genet; 2009 Apr; 125(3):336. PubMed ID: 19309800
[No Abstract] [Full Text] [Related]
10. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
Bernstein HS; Bishop DF; Astrin KH; Kornreich R; Eng CM; Sakuraba H; Desnick RJ
J Clin Invest; 1989 Apr; 83(4):1390-9. PubMed ID: 2539398
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Mutation analysis in 11 French patients with Fabry disease.
Guffon N; Froissart R; Chevalier-Porst F; Maire I
Hum Mutat; 1998; Suppl 1():S288-90. PubMed ID: 9452111
[No Abstract] [Full Text] [Related]
14. 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]
15. Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Okumiya T; Kawamura O; Itoh K; Kase R; Ishii S; Kamei S; Sakuraba H
Hum Mutat; 1998; Suppl 1():S213-6. PubMed ID: 9452090
[No Abstract] [Full Text] [Related]
16. Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
Kono JO; Podskarbi T; Shin Y; Lanzl I
Cornea; 2003 Mar; 22(2):175-7. PubMed ID: 12605057
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Novel alpha-galactosidase A mutation in a female with recurrent strokes.
Tuttolomondo A; Duro G; Miceli S; Di Raimondo D; Pecoraro R; Serio A; Albeggiani G; Nuzzo D; Iemolo F; Pizzo F; Sciarrino S; Licata G; Pinto A
Clin Biochem; 2012 Nov; 45(16-17):1525-30. PubMed ID: 22820434
[TBL] [Abstract][Full Text] [Related]
19. A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
Tuttolomondo A; Duro G; Pecoraro R; Simonetta I; Miceli S; Colomba P; Zizzo C; Di Chiara T; Scaglione R; Della Corte V; Corpora F; Pinto A
Clin Biochem; 2015 Jan; 48(1-2):55-62. PubMed ID: 25281798
[TBL] [Abstract][Full Text] [Related]
20. Previously Unreported in Women
Luis SA; Maleszewski JJ; Young PM; Schaff HV; Pereira NL
Circ Cardiovasc Genet; 2017 Aug; 10(4):e001661. PubMed ID: 28768754
[No Abstract] [Full Text] [Related]
[Next] [New Search]