139 related articles for article (PubMed ID: 12654983)
1. Clinical diagnosis of Fabry disease: whorl-like corneal opacity.
Yoshikawa H; Ogawa I
Neurology; 2003 Mar; 60(6):1048. PubMed ID: 12654983
[No Abstract] [Full Text] [Related]
2. 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]
3. Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion.
Ro LS; Chen CM; Chang HS; Lyu RK; Wu YR; Hsu WC; Lee-Chen GJ
Eur J Neurol; 2007 May; 14(5):493-7. PubMed ID: 17437606
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. [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]
6. Severe orthostatic hypotension in a female carrier of Fabry's disease.
Mutoh T; Senda Y; Sugimura K; Koike Y; Matsuoka Y; Sobue I; Takahashi A; Naoi M
Arch Neurol; 1988 Apr; 45(4):468-72. PubMed ID: 3128256
[TBL] [Abstract][Full Text] [Related]
7. Central retinal artery occlusion complicating Fabry's disease.
Sher NA; Reiff W; Letson RD; Desnick RJ
Arch Ophthalmol; 1978 May; 96(5):815-7. PubMed ID: 207248
[TBL] [Abstract][Full Text] [Related]
8. [Cornea verticillata - a clinical marker of Fabry disease: case report].
Cordeiro CA; Oréfice F; Lasmar EP; Santos HH; Valadares ER
Arq Bras Oftalmol; 2007; 70(4):701-5. PubMed ID: 17906770
[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. Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
Morrone A; Cavicchi C; Bardelli T; Antuzzi D; Parini R; Di Rocco M; Feriozzi S; Gabrielli O; Barone R; Pistone G; Spisni C; Ricci R; Zammarchi E
J Med Genet; 2003 Aug; 40(8):e103. PubMed ID: 12920095
[No Abstract] [Full Text] [Related]
11. A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease.
Meaney C; Blanch LC; Morris CP
Hum Mol Genet; 1994 Jun; 3(6):1019-20. PubMed ID: 7951217
[No Abstract] [Full Text] [Related]
12. [Significance of early ophthalmologic detection of Fabry disease].
Konrad G; Kohlschütter A; Aust W
Klin Monbl Augenheilkd; 1984 Dec; 185(6):535-8. PubMed ID: 6441859
[TBL] [Abstract][Full Text] [Related]
13. Fabry disease - importance of screening in cornea verticillata: case report.
Yonamine FY; Arantes TE; Muccioli C
Arq Bras Oftalmol; 2011; 74(6):447-8. PubMed ID: 22331121
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Detection of Fabry's disease carriers by enzyme assay of hair roots.
Hatton CE; Cooper A; Sardharwalla IB
J Inherit Metab Dis; 1989; 12 Suppl 2():369-71. PubMed ID: 2556612
[No Abstract] [Full Text] [Related]
16. [Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection].
Bovey EH; Saurer F
Klin Monbl Augenheilkd; 1991 May; 198(5):354-7. PubMed ID: 1886355
[TBL] [Abstract][Full Text] [Related]
17. [Fabry's disease and cornea verticillata].
Tuppurainen K; Collan Y; Korhonen K; Rantanen T; Hollmén A
Duodecim; 1982; 98(14):1073-8. PubMed ID: 6813100
[No Abstract] [Full Text] [Related]
18. Fabry disease previously diagnosed as Henoch-Schonlein purpura.
Kim JH; Han DH; Park MY; Choi SJ; Kim JK; Hwang SD; Jin SY
Korean J Intern Med; 2015 Nov; 30(6):925-7. PubMed ID: 26552470
[No Abstract] [Full Text] [Related]
19. Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu AK; Ashley GA; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
Mol Med; 1999 Dec; 5(12):806-11. PubMed ID: 10666480
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
