125 related articles for article (PubMed ID: 38186123)
1. [Clinical analysis of 10 patients with Fabry disease].
Wang RZ; Xiao HB
Zhonghua Nei Ke Za Zhi; 2024 Jan; 63(1):89-93. PubMed ID: 38186123
[TBL] [Abstract][Full Text] [Related]
2. Beneficial screening of Fabry disease in patients with hypohidrosis.
Nagai-Sangawa M; Fukunaga A; Takeuchi C; Nishiyama S; Horikawa T; Nagano C; Nozu K; Fujii H; Nishigori C
J Dermatol; 2022 Feb; 49(2):308-312. PubMed ID: 34796992
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic spectrum in Chinese families with Fabry disease: a single-centre case series.
Chen X; Li H; Liao H; Zhan X; Zhong Z; Zhang Q; Liu L; Liang Y; Deng H; Fang X; Xue Y; Wu S; Liu Y
ESC Heart Fail; 2021 Dec; 8(6):5436-5444. PubMed ID: 34704396
[TBL] [Abstract][Full Text] [Related]
4. Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Smid BE; Hollak CE; Poorthuis BJ; van den Bergh Weerman MA; Florquin S; Kok WE; Lekanne Deprez RH; Timmermans J; Linthorst GE
Clin Genet; 2015 Aug; 88(2):161-6. PubMed ID: 25040344
[TBL] [Abstract][Full Text] [Related]
5. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS; Bento JCB; Pereira RMR
Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
[TBL] [Abstract][Full Text] [Related]
6. Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.
Shen Q; Liu J; Chen J; Zhou S; Wang Y; Yu L; Sun L; Wang L; Wu B; Liu F; Cao Y; Huang Y; Wang J; Yang C; Zhu D; Ma Y; Xu Z; Lu W; Fu L; Zhou W; Xu H
Orphanet J Rare Dis; 2021 Dec; 16(1):509. PubMed ID: 34906154
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
Esposito P; Caputo C; Repetto M; Somaschini A; Pietro B; Colomba P; Zizzo C; Parodi A; Zanetti V; Canepa M; Eustachi V; Sanguineri F; Mandich P; Viazzi F
BMC Nephrol; 2023 Nov; 24(1):344. PubMed ID: 37990184
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Results of Fabry Disease Screening in Male Pre-End Stage Renal Disease Patients with Unknown Etiology Found Through the Platform of a Chronic Kidney Disease Education Program in a Northern Taiwan Medical Center.
Lin CJ; Chien YH; Lai TS; Shih HM; Chen YC; Pan CF; Chen HH; Hwu WL; Wu CJ
Kidney Blood Press Res; 2018; 43(5):1636-1645. PubMed ID: 30380558
[TBL] [Abstract][Full Text] [Related]
11. Globotriaosylsphingosine (Lyso-Gb
Alharbi FJ; Baig S; Auray-Blais C; Boutin M; Ward DG; Wheeldon N; Steed R; Dawson C; Hughes D; Geberhiwot T
J Inherit Metab Dis; 2018 Mar; 41(2):239-247. PubMed ID: 29294190
[TBL] [Abstract][Full Text] [Related]
12. The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
Mallett A; Kearey P; Cameron A; Healy H; Denaro C; Thomas M; Lee VW; Stark S; Fuller M; Hoy WE
BMC Nephrol; 2020 Feb; 21(1):58. PubMed ID: 32087678
[TBL] [Abstract][Full Text] [Related]
13. Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H; Taguchi A; Mikame M; Izawa A; Morito N; Izaki K; Seto T; Onishi A; Sugiyama H; Sakai N; Yamabe K; Yokoyama Y; Yamashita S; Satoh H; Toyoda S; Hosojima M; Ito Y; Tazawa R; Ishii S
Curr Issues Mol Biol; 2021 Jun; 43(1):389-404. PubMed ID: 34205365
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Verrecchia E; Zampetti A; Antuzzi D; Ricci R; Ferri L; Morrone A; Feliciani C; Dagna L; Manna R
Eur J Intern Med; 2016 Jul; 32():26-30. PubMed ID: 27083555
[TBL] [Abstract][Full Text] [Related]
18. Anderson-Fabry disease: a multiorgan disease.
Tuttolomondo A; Pecoraro R; Simonetta I; Miceli S; Pinto A; Licata G
Curr Pharm Des; 2013; 19(33):5974-96. PubMed ID: 23448451
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]