102 related articles for article (PubMed ID: 20654270)
1. [A family with a rare disease].
Capelo J; Soares C; Carragoso A; Ribeiro P; Girão F; Henriques P
Acta Med Port; 2010; 23(3):499-504. PubMed ID: 20654270
[TBL] [Abstract][Full Text] [Related]
2. Fabry disease.
Tarabuso AL
Skinmed; 2011; 9(3):173-7. PubMed ID: 21675497
[TBL] [Abstract][Full Text] [Related]
3. Clinical spectrum of Anderson Fabry disease in a Romanian family.
Tudor A; Muşat A; Doscan A; Bari M; Zapucioiu C; Urdea E; Cochior D; Peţa D
Rom J Intern Med; 2006; 44(2):201-10. PubMed ID: 17236300
[TBL] [Abstract][Full Text] [Related]
4. Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report.
Porsch DB; Nunes AC; Milani V; Rossato LB; Mattos CB; Tsao M; Netto C; Burin M; Pereira F; Matte U; Giugliani R; Barros EJ
Ren Fail; 2008; 30(9):825-30. PubMed ID: 18925518
[TBL] [Abstract][Full Text] [Related]
5. [Fabry disease: diagnostic due of substitutive enzyme-therapy].
Barbey F; Widmer U; Burnier M; Lidove O
Rev Med Suisse Romande; 2002 Sep; 122(9):449-53. PubMed ID: 12422475
[TBL] [Abstract][Full Text] [Related]
6. [Description of a new mutation in a female patient with Fabry disease].
Correia E; Vidinha J; Rodrigues B; Santos L; Moreira D; Garrido J; Clara Sá Miranda M; Cabral C; Santos O
Rev Port Cardiol; 2011 Oct; 30(10):789-93. PubMed ID: 22118130
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.
Terryn W; Cochat P; Froissart R; Ortiz A; Pirson Y; Poppe B; Serra A; Van Biesen W; Vanholder R; Wanner C
Nephrol Dial Transplant; 2013 Mar; 28(3):505-17. PubMed ID: 23234755
[TBL] [Abstract][Full Text] [Related]
9. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
Merta M; Reiterova J; Ledvinova J; Poupetová H; Dobrovolny R; Rysavá R; Maixnerová D; Bultas J; Motán J; Slivkova J; Sobotova D; Smrzova J; Tesar V
Nephrol Dial Transplant; 2007 Jan; 22(1):179-86. PubMed ID: 17040996
[TBL] [Abstract][Full Text] [Related]
10. Fabry disease: treatment and diagnosis.
Rozenfeld PA
IUBMB Life; 2009 Nov; 61(11):1043-50. PubMed ID: 19859978
[TBL] [Abstract][Full Text] [Related]
11. Neurological manifestation of Fabry disease--a case report.
Demarin V; Kes VB; Bitunjac M; Ivanković M
Coll Antropol; 2009 Dec; 33 Suppl 2():177-9. PubMed ID: 20120409
[TBL] [Abstract][Full Text] [Related]
12. When should cardiologists suspect Anderson-Fabry disease?
Gambarin FI; Disabella E; Narula J; Diegoli M; Grasso M; Serio A; Favalli BM; Agozzino M; Tavazzi L; Fraser AG; Arbustini E
Am J Cardiol; 2010 Nov; 106(10):1492-9. PubMed ID: 21059442
[TBL] [Abstract][Full Text] [Related]
13. [Early diagnosis of Fabry disease in children].
Genoni G; Demarchi I; Bellone S; Petri A; Settanni F; Dondi E; Negro M; Cortese L; Prodam F; Bona G
Minerva Pediatr; 2011 Oct; 63(5):425-30. PubMed ID: 21946453
[TBL] [Abstract][Full Text] [Related]
14. Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder.
Samiy N
Surv Ophthalmol; 2008; 53(4):416-23. PubMed ID: 18572058
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: molecular genetics of the inherited nephropathy.
Desnick RJ; Astrin KH; Bishop DF
Adv Nephrol Necker Hosp; 1989; 18():113-27. PubMed ID: 2564247
[TBL] [Abstract][Full Text] [Related]
16. [Anderson-Fabry disease].
Kes P; Basić-Jukić N; Brunetta B; Jurić I
Acta Med Croatica; 2006; 60(1):55-8. PubMed ID: 16802573
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys.
Cybulla M; Schaefer E; Wendt S; Ling H; Kröber SM; Hövelborn U; Schandelmaier S; Rohrbach R; Neumann HP
Am J Kidney Dis; 2005 May; 45(5):e82-9. PubMed ID: 15861341
[TBL] [Abstract][Full Text] [Related]
20. Pseudoacromegalic facial features in Fabry disease.
Hogarth V; Hughes D; Orteu CH
Clin Exp Dermatol; 2013 Mar; 38(2):137-9. PubMed ID: 22731890
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
