200 related articles for article (PubMed ID: 29491734)
21. Fabry kidney disease.
Moran V; Obrador GT; Thadhani R
Saudi J Kidney Dis Transpl; 2003; 14(3):367-77. PubMed ID: 17657109
[TBL] [Abstract][Full Text] [Related]
22. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X; Ouyang Y; Wang Z; Ren H; Shen P; Wang W; Xu Y; Ni L; Yu X; Chen X; Zhang W; Yang L; Li X; Xu J; Chen N
PLoS One; 2016; 11(8):e0161330. PubMed ID: 27560961
[TBL] [Abstract][Full Text] [Related]
23. Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S; Kido J; Sawada T; Momosaki K; Sugawara K; Matsumoto S; Endo F; Nakamura K
Orphanet J Rare Dis; 2020 Aug; 15(1):220. PubMed ID: 32843101
[TBL] [Abstract][Full Text] [Related]
24. Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Lenders M; Weidemann F; Kurschat C; Canaan-Kühl S; Duning T; Stypmann J; Schmitz B; Reiermann S; Krämer J; Blaschke D; Wanner C; Brand SM; Brand E
Orphanet J Rare Dis; 2016 May; 11(1):54. PubMed ID: 27142856
[TBL] [Abstract][Full Text] [Related]
25. A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
Ge W; Wei B; Zhu H; Miao Z; Zhang W; Leng C; Li J; Zhang D; Sun M; Xu X
Int J Neurosci; 2017 May; 127(5):448-453. PubMed ID: 27211852
[TBL] [Abstract][Full Text] [Related]
26. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.
Adalsteinsdottir B; Palsson R; Desnick RJ; Gardarsdottir M; Teekakirikul P; Maron M; Appelbaum E; Neisius U; Maron BJ; Burke MA; Chen B; Pagant S; Madsen CV; Danielsen R; Arngrimsson R; Feldt-Rasmussen U; Seidman JG; Seidman CE; Gunnarsson GT
Circ Cardiovasc Genet; 2017 Aug; 10(4):. PubMed ID: 28798024
[TBL] [Abstract][Full Text] [Related]
27. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Nakao S; Kodama C; Takenaka T; Tanaka A; Yasumoto Y; Yoshida A; Kanzaki T; Enriquez AL; Eng CM; Tanaka H; Tei C; Desnick RJ
Kidney Int; 2003 Sep; 64(3):801-7. PubMed ID: 12911529
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Fabry disease: Review and experience during newborn screening.
Hsu TR; Niu DM
Trends Cardiovasc Med; 2018 May; 28(4):274-281. PubMed ID: 29100912
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
Zizzo C; Monte I; Pisani A; Fatuzzo P; Riccio E; Rodolico MS; Colomba P; Uva M; Cammarata G; Alessandro R; Iemolo F; Duro G
Gene; 2016 Mar; 578(1):100-4. PubMed ID: 26691501
[TBL] [Abstract][Full Text] [Related]
32. High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T; Kido J; Sugawara K; Nakamura K
Diagnostics (Basel); 2021 Sep; 11(10):. PubMed ID: 34679477
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
Consolato F; De Fusco M; Schaeffer C; Pieruzzi F; Scolari F; Gallieni M; Lanzani C; Feriozzi S; Rampoldi L
Mol Genet Metab Rep; 2022 Dec; 33():100926. PubMed ID: 36345359
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.
Duro G; Musumeci MB; Colomba P; Zizzo C; Albeggiani G; Mastromarino V; Volpe M; Autore C
Gene; 2014 Feb; 535(2):365-9. PubMed ID: 24140492
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Clinical, histological and molecular characteristics of Mexican patients with Fabry disease and significant renal involvement.
Ramos-Kuri M; Olvera D; Morales JJ; Rodriguez-Espino BA; Lara-Mejía A; De Los Ríos D; Obrador GT; Granados J; Correa-Rotter R
Arch Med Res; 2014 Apr; 45(3):257-62. PubMed ID: 24656905
[TBL] [Abstract][Full Text] [Related]
39. [Fabry disease in light of recent review].
Uyama E
Brain Nerve; 2008 Nov; 60(11):1235-44. PubMed ID: 19069157
[TBL] [Abstract][Full Text] [Related]
40. Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Filoni C; Caciotti A; Carraresi L; Cavicchi C; Parini R; Antuzzi D; Zampetti A; Feriozzi S; Poisetti P; Garman SC; Guerrini R; Zammarchi E; Donati MA; Morrone A
Biochim Biophys Acta; 2010 Feb; 1802(2):247-52. PubMed ID: 19941952
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
