173 related articles for article (PubMed ID: 35870541)
1. Functional characterization of novel variants found in patients with suspected Fabry disease.
Varela-Calais P; Nicolicht P; Paulo Martin R; Yamamoto J; D'Almeida V; Martins AM; Pesquero JB
Clin Chim Acta; 2022 Sep; 534():156-160. PubMed ID: 35870541
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
Romani I; Sarti C; Nencini P; Pracucci G; Zedde M; Cianci V; Nucera A; Moller J; Orsucci D; Toni D; Palumbo P; Casella C; Pinto V; Barbarini L; Bella R; Scoditti U; Ragno M; Mezzapesa DM; Tassi R; Volpi G; Diomedi M; Bigliardi G; Cavallini AM; Chiti A; Ricci S; Cecconi E; Linoli G; Sacco S; Rasura M; Giordano A; Bonetti B; Melis M; Cariddi LP; Dossi RC; Grisendi I; Aguglia U; Di Ruzza MR; Melis M; Sbardella E; Vista M; Valenti R; Musolino RF; Passarella B; Direnzo V; Pennisi G; Genovese A; Di Marzio F; Sgobio R; Acampa M; Nannucci S; Dagostino F; Dell'Acqua ML; Cuzzoni MG; Picchioni A; Calchetti B; Notturno F; Di Lisi F; Forlivesi S; Delodovici ML; Buechner SC; Biagini S; Accavone D; Manna R; Morrone A; Inzitari D
J Neurol Sci; 2024 Feb; 457():122905. PubMed ID: 38295534
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Novel GLA T194A variant causes Fabry disease.
Pestana MN; Gomes da Silva F; Durães J; Silva G
BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33649041
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J; Scalia S; Eichler S; Pockrandt AM; Dehn N; Cozma C; Giese AK; Rolfs A
Hum Mutat; 2016 Jan; 37(1):43-51. PubMed ID: 26415523
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
[TBL] [Abstract][Full Text] [Related]
10. Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L; Malesci D; Fioravanti A; Bagordo G; Filippini A; Ficcadenti A; Manna R; Antuzzi D; Verrecchia E; Donati I; Mignani R; Cavicchi C; Guerrini R; Morrone A
Clin Chim Acta; 2018 Jun; 481():25-33. PubMed ID: 29476735
[TBL] [Abstract][Full Text] [Related]
11. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S; Ortiz A; Germain DP; Viana-Baptista M; Caldeira-Gomes A; Camprecios M; Fenollar-Cortés M; Gallegos-Villalobos Á; Garcia D; García-Robles JA; Egido J; Gutiérrez-Rivas E; Herrero JA; Mas S; Oancea R; Péres P; Salazar-Martín LM; Solera-Garcia J; Alves H; Garman SC; Oliveira JP
Mol Genet Metab; 2015 Feb; 114(2):248-58. PubMed ID: 25468652
[TBL] [Abstract][Full Text] [Related]
12. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P; Mastroianni Kirsztajn G; Motta FL; Martin RP; Turaça LT; Ferrer HLF; Gomes CP; Nicolicht P; Mara Marins M; Pessoa JG; Braga MC; D'Almeida V; Martins AM; Pesquero JB
Orphanet J Rare Dis; 2020 Jan; 15(1):30. PubMed ID: 31996269
[TBL] [Abstract][Full Text] [Related]
13. The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.
Savostyanov K; Pushkov A; Zhanin I; Mazanova N; Trufanov S; Pakhomov A; Alexeeva A; Sladkov D; Asanov A; Fisenko A
Orphanet J Rare Dis; 2022 May; 17(1):199. PubMed ID: 35578305
[TBL] [Abstract][Full Text] [Related]
14. Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.
Peng Y; Pan M; Wang Y; Shen Z; Xu J; Xiong F; Xiao H; Miao Y
Ren Fail; 2024 Dec; 46(2):2362391. PubMed ID: 38847497
[TBL] [Abstract][Full Text] [Related]
15. Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.
Varela P; Carvalho G; Martin RP; Pesquero JB
Metab Brain Dis; 2021 Feb; 36(2):265-272. PubMed ID: 33156427
[TBL] [Abstract][Full Text] [Related]
16. Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A; Petra R; Paulasová Schwabová J; Olšerová A; Škorňa M; Nevšímalová M; Šimůnek L; Herzig R; Fafejtová Š; Mikulenka P; Táboříková A; Neumann J; Brzezny R; Sobolová H; Bartoník J; Václavík D; Vachová M; Bechyně K; Havlíková H; Prax T; Šaňák D; Černíková I; Ondečková I; Procházka P; Rajner J; Škoda M; Novák J; Škoda O; Bar M; Mikulík R; Dostálová G; Linhart A;
PLoS One; 2021; 16(12):e0260601. PubMed ID: 34905550
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. GLA variation p.E66Q identified as the genetic etiology of Fabry disease using exome sequencing.
Peng H; Xu X; Zhang L; Zhang X; Peng H; Zheng Y; Luo S; Guo H; Xia K; Li J; Yao H; Hu Z
Gene; 2016 Jan; 575(2 Pt 1):363-7. PubMed ID: 26456105
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
Ebrahim HY; Baker RJ; Mehta AB; Hughes DA
J Inherit Metab Dis; 2012 Mar; 35(2):325-34. PubMed ID: 21972175
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
