377 related articles for article (PubMed ID: 32590976)
1. First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.
Greillier S; Daniel L; Caillaud C; Dussol B; Touchard G; Goujon JM; Jourde-Chiche N; Bobot M
BMC Med Genet; 2020 Jun; 21(1):137. PubMed ID: 32590976
[TBL] [Abstract][Full Text] [Related]
2. Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.
Čerkauskaitė A; Čerkauskienė R; Miglinas M; Laurinavičius A; Ding C; Rolfs A; Vencevičienė L; Barysienė J; Kazėnaitė E; Sadauskienė E
Medicina (Kaunas); 2019 May; 55(5):. PubMed ID: 31067829
[No Abstract] [Full Text] [Related]
3. 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]
4. Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
Chong Y; Kim M; Koh ES; Shin SJ; Kim HS; Chung S
BMC Med Genet; 2016 Oct; 17(1):76. PubMed ID: 27776503
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
[TBL] [Abstract][Full Text] [Related]
6. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
Pisani A; Imbriaco M; Zizzo C; Albeggiani G; Colomba P; Alessandro R; Iemolo F; Duro G
BMC Cardiovasc Disord; 2012 Jun; 12():39. PubMed ID: 22682330
[TBL] [Abstract][Full Text] [Related]
7. Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene.
Cianci V; Pascarella A; Gasparini S; Donadio V; Liguori R; Incensi A; Rao CM; Franzutti C; Scappatura G; Aguglia U; Ferlazzo E
Metab Brain Dis; 2022 Dec; 37(8):3023-3026. PubMed ID: 36178639
[TBL] [Abstract][Full Text] [Related]
8. Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.
Zhang R; Chen Z; Lang Y; Shao S; Cai Y; You Q; Sun Y; Wang S; Shi X; Liu Z; Guo W; Han Y; Shao L
Ren Fail; 2020 Nov; 42(1):958-965. PubMed ID: 32924720
[TBL] [Abstract][Full Text] [Related]
9. Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body.
Oikawa M; Sakamoto N; Kobayashi A; Suzuki S; Yoshihisa A; Yamaki T; Nakazato K; Suzuki H; Saitoh S; Kiko Y; Nakano H; Hayashi T; Kimura A; Takeishi Y
BMC Cardiovasc Disord; 2016 May; 16():83. PubMed ID: 27160240
[TBL] [Abstract][Full Text] [Related]
10. Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
Meehan SM; Junsanto T; Rydel JJ; Desnick RJ
Am J Kidney Dis; 2004 Jan; 43(1):164-71. PubMed ID: 14712441
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
[TBL] [Abstract][Full Text] [Related]
13. Functional evaluation of a novel GLA causative mutation in Fabry disease.
Li P; Zhang L; Xiong Q; Wang Z; Cui X; Zhou YA; Wang Y; Xiao H; Wu C
Mol Genet Genomic Med; 2019 Sep; 7(9):e864. PubMed ID: 31321922
[TBL] [Abstract][Full Text] [Related]
14. Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype.
Csányi B; Hategan L; Nagy V; Obál I; Varga ET; Borbás J; Tringer A; Eichler S; Forster T; Rolfs A; Sepp R
Int Heart J; 2017 May; 58(3):454-458. PubMed ID: 28496025
[TBL] [Abstract][Full Text] [Related]
15. Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study.
Cerón-Rodríguez M; Ramón-García G; Barajas-Colón E; Franco-Álvarez I; Salgado-Loza JL
Mol Genet Genomic Med; 2019 Nov; 7(11):e981. PubMed ID: 31566927
[TBL] [Abstract][Full Text] [Related]
16. A case of latent heterozygous Fabry disease in a female living kidney donor candidate.
Minami M; Mizuma E; Nakahara M; Oda Y; Yoshimine H; Tokunaga K; Mitsuke A; Yamada Y; Enokida H; Masutani K; Goto N; Ido A
CEN Case Rep; 2021 Feb; 10(1):30-34. PubMed ID: 32712909
[TBL] [Abstract][Full Text] [Related]
17. A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.
Veloso VSP; Ataides TL; Canziani MEF; Veloso MP; da Silva NA; Barreto DV; Pereira ERS; de Moura LAR; Barreto FC
Nephron; 2018; 138(2):147-156. PubMed ID: 28892806
[TBL] [Abstract][Full Text] [Related]
18. Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela P; Mastroianni Kirsztajn G; Ferrer H; Aranda C; Wallbach K; Ferreira da Mata G; Moura LA; Moreira SR; Mendes C; Curiati MA; Martins AM; Bosco Pesquero J
Nephron; 2020; 144(3):147-155. PubMed ID: 31665721
[TBL] [Abstract][Full Text] [Related]
19. Concurrent fabry disease and immunoglobulin a nephropathy: a case report.
Zhou LN; Dong SS; Zhang SZ; Huang LW; Huang W
BMC Nephrol; 2023 Nov; 24(1):324. PubMed ID: 37914990
[TBL] [Abstract][Full Text] [Related]
20. GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?
Chaves-Markman ÂV; Markman M; Calado EB; Pires RF; Santos-Veloso MAO; Pereira CMF; Lordsleem ABMDS; Lima SG; Markman Filho B; Oliveira DC
Arq Bras Cardiol; 2019 Jul; 113(1):77-84. PubMed ID: 31291414
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]