624 related articles for article (PubMed ID: 30477121)
1. 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]
2. α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.
Baydakova GV; Ilyushkina AA; Moiseev S; Bychkov IO; Nikitina NV; Buruleva ТА; Zakharova EY
Clin Chim Acta; 2020 Feb; 501():27-32. PubMed ID: 31770509
[TBL] [Abstract][Full Text] [Related]
3. Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.
Duro G; Anania M; Zizzo C; Francofonte D; Giacalone I; D'Errico A; Marsana EM; Colomba P
Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791200
[TBL] [Abstract][Full Text] [Related]
4. Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
Nowak A; Mechtler TP; Hornemann T; Gawinecka J; Theswet E; Hilz MJ; Kasper DC
Mol Genet Metab; 2018 Feb; 123(2):148-153. PubMed ID: 28728877
[TBL] [Abstract][Full Text] [Related]
5. Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.
Nowak A; Mechtler TP; Desnick RJ; Kasper DC
Mol Genet Metab; 2017; 120(1-2):57-61. PubMed ID: 27773586
[TBL] [Abstract][Full Text] [Related]
6. Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
Smid BE; van der Tol L; Biegstraaten M; Linthorst GE; Hollak CE; Poorthuis BJ
J Med Genet; 2015 Apr; 52(4):262-8. PubMed ID: 25596309
[TBL] [Abstract][Full Text] [Related]
7. Metabolic progression to clinical phenotype in classic Fabry disease.
Spada M; Kasper D; Pagliardini V; Biamino E; Giachero S; Porta F
Ital J Pediatr; 2017 Jan; 43(1):1. PubMed ID: 28049500
[TBL] [Abstract][Full Text] [Related]
8. Fabry disease due to D313Y and novel GLA mutations.
Koulousios K; Stylianou K; Pateinakis P; Zamanakou M; Loules G; Manou E; Kyriklidou P; Katsinas C; Ouzouni A; Kyriazis J; Speletas M; Germenis AE
BMJ Open; 2017 Oct; 7(10):e017098. PubMed ID: 28988177
[TBL] [Abstract][Full Text] [Related]
9. Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).
Liao HC; Huang YH; Chen YJ; Kao SM; Lin HY; Huang CK; Liu HC; Hsu TR; Lin SP; Yang CF; Fann CS; Chiu PC; Hsieh KS; Fu YC; Ke YY; Lin CY; Tsai FJ; Wang CH; Chao MC; Yu WC; Chiang CC; Niu DM
Clin Chim Acta; 2013 Nov; 426():114-20. PubMed ID: 24055776
[TBL] [Abstract][Full Text] [Related]
10. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
Delarosa-Rodríguez R; Santotoribio JD; Paula HA; González-Meneses A; García-Morillo S; Jiménez-Arriscado P; Guerrero JM; Macher HC
Clin Genet; 2021 Jun; 99(6):761-771. PubMed ID: 33527381
[TBL] [Abstract][Full Text] [Related]
11. Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.
Malvagia S; Ferri L; Della Bona M; Borsini W; Cirami CL; Dervishi E; Feriozzi S; Gasperini S; Motta S; Mignani R; Trezzi B; Pieruzzi F; Morrone A; Daniotti M; Donati MA; la Marca G
Clin Chem Lab Med; 2021 Aug; 59(9):1516-1526. PubMed ID: 33915609
[TBL] [Abstract][Full Text] [Related]
12. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease.
Rombach SM; Dekker N; Bouwman MG; Linthorst GE; Zwinderman AH; Wijburg FA; Kuiper S; Vd Bergh Weerman MA; Groener JE; Poorthuis BJ; Hollak CE; Aerts JM
Biochim Biophys Acta; 2010 Sep; 1802(9):741-8. PubMed ID: 20471476
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Clinical Diversity in Patients with Anderson-fabry Disease with the R301Q Mutation.
Yamamoto S; Nagasawa T; Sugimura K; Kanno A; Tatebe S; Aoki T; Sato H; Kozu K; Konno R; Nochioka K; Satoh K; Shimokawa H
Intern Med; 2019 Feb; 58(4):603-607. PubMed ID: 30333391
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of the GLA gene in Mexican families with Fabry disease.
Gutiérrez-Amavizca BE; Gal A; Ortíz-Orozco R; Orth U; Prado Montes De Oca E; Gutiérrez-Amavizca JP; Figuera LE
J Genet; 2017 Mar; 96(1):161-164. PubMed ID: 28360401
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.
Kinoshita N; Hosomi N; Matsushima H; Nakamori M; Yagita Y; Yamawaki T; Torii T; Kitamura T; Sueda Y; Shimomura R; Araki M; Nezu T; Aoki S; Ishii S; Maruyama H; Matsumoto M; Maruyama H
J Stroke Cerebrovasc Dis; 2018 Dec; 27(12):3563-3569. PubMed ID: 30201457
[TBL] [Abstract][Full Text] [Related]
20. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J; Giese AK; Markoff A; Grittner U; Kolodny E; Mascher H; Lackner KJ; Meyer W; Wree P; Saviouk V; Rolfs A
PLoS Genet; 2013; 9(8):e1003632. PubMed ID: 23935525
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]