243 related articles for article (PubMed ID: 15162124)
41. 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]
42. Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.
De Schoenmakere G; Poppe B; Wuyts B; Claes K; Cassiman D; Maes B; Verbeelen D; Vanholder R; Kuypers DR; Lameire N; De Paepe A; Terryn W
Nephrol Dial Transplant; 2008 Dec; 23(12):4044-8. PubMed ID: 18596132
[TBL] [Abstract][Full Text] [Related]
43. 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]
44. Alpha-galactosidase activity should be examined in patients with proteinuria: what have we learned from a family affected with Fabry disease?
Lee NC; Niu DM; Lin CY; Hsiao KJ; Yang AH; Ng YY
Nephrol Dial Transplant; 2006 Feb; 21(2):549-50. PubMed ID: 16221700
[No Abstract] [Full Text] [Related]
45. Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D; Hill J; Winchester B
Hum Mutat; 2001 Nov; 18(5):459. PubMed ID: 11668641
[TBL] [Abstract][Full Text] [Related]
46. 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]
47. Kidney transplantation and enzyme alpha-galactosidase A therapy in patient with Fabry disease: a case report.
Dziemianko I; Jezior D; Boratyńska M; Patrzałek D; Kuźniar J; Szyber P; Klinger M
Transplant Proc; 2007 Nov; 39(9):2925-7. PubMed ID: 18022018
[TBL] [Abstract][Full Text] [Related]
48. Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
Ishii S; Sakuraba H; Shimmoto M; Minamikawa-Tachino R; Suzuki T; Suzuki Y
Ann Neurol; 1991 May; 29(5):560-4. PubMed ID: 1650161
[TBL] [Abstract][Full Text] [Related]
49. The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.
Hasholt L; Ballegaard M; Bundgaard H; Christiansen M; Law I; Lund AM; Norremolle A; Krogh Rasmussen A; Ravn K; Tumer Z; Wibrand F; Feldt-Rasmussen U
Scand J Clin Lab Invest; 2017 Dec; 77(8):617-621. PubMed ID: 29037082
[TBL] [Abstract][Full Text] [Related]
50. Natural history and treatment of renal involvement in Fabry disease.
Branton M; Schiffmann R; Kopp JB
J Am Soc Nephrol; 2002 Jun; 13 Suppl 2():S139-43. PubMed ID: 12068026
[No Abstract] [Full Text] [Related]
51. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
52. 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]
53. Association of renal ectopia with Fabry's disease in 3 patients.
Rákóczi E; Tóth B; Görögh S; Erdos M; Sümegi J; Maródi L
J Urol; 2009 Apr; 181(4):1949-54. PubMed ID: 19237168
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.
Terryn W; Poppe B; Wuyts B; Claes K; Maes B; Verbeelen D; Vanholder R; De Boeck K; Lameire N; De Paepe A; De Schoenmakere G
Nephrol Dial Transplant; 2008 Jan; 23(1):294-300. PubMed ID: 17804462
[TBL] [Abstract][Full Text] [Related]
56. 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]
57. Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Feldt-Rasmussen U; Dobrovolny R; Nazarenko I; Ballegaard M; Hasholt L; Rasmussen AK; Christensen EI; Sorensen SS; Wibrand F; Desnick RJ
Mol Genet Metab; 2011 Nov; 104(3):314-8. PubMed ID: 21641253
[TBL] [Abstract][Full Text] [Related]
58. Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Dominissini S; Cariati R; Nevyjel M; Guerci V; Ciana G; Bembi B; Pittis MG
Hum Hered; 2004; 57(3):138-41. PubMed ID: 15297807
[TBL] [Abstract][Full Text] [Related]
59. Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.
Lin WD; Hwu WL; Liu SC; Chen CP; Tsai FJ
Hum Genet; 2007 Sep; 122(2):212. PubMed ID: 18386366
[No Abstract] [Full Text] [Related]
60. Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.
Rodrigues LG; Ferraz MJ; Rodrigues D; Pais-Vieira M; Lima D; Brady RO; Sousa MM; Sá-Miranda MC
Neurobiol Dis; 2009 Jan; 33(1):48-56. PubMed ID: 18848893
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]