334 related articles for article (PubMed ID: 23595598)
1. Diagnosing lysosomal storage disorders: Fabry disease.
Bodamer OA; Johnson B; Dajnoki A
Curr Protoc Hum Genet; 2013; Chapter 17():Unit17.13. PubMed ID: 23595598
[TBL] [Abstract][Full Text] [Related]
2. Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Dajnoki A; Fekete G; Keutzer J; Orsini JJ; De Jesus VR; Chien YH; Hwu WL; Lukacs Z; Mühl A; Zhang XK; Bodamer O
Clin Chim Acta; 2010 Oct; 411(19-20):1428-31. PubMed ID: 20338160
[TBL] [Abstract][Full Text] [Related]
3. Diagnosing lysosomal storage disorders: Pompe disease.
Bodamer OA; Dajnoki A
Curr Protoc Hum Genet; 2012 Oct; Chapter 17():Unit17.11. PubMed ID: 23074069
[TBL] [Abstract][Full Text] [Related]
4. Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.
Caudron E; Prognon P; Germain DP
Eur J Med Genet; 2015 Dec; 58(12):681-4. PubMed ID: 26520229
[TBL] [Abstract][Full Text] [Related]
5. Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
Gragnaniello V; Burlina AP; Polo G; Giuliani A; Salviati L; Duro G; Cazzorla C; Rubert L; Maines E; Germain DP; Burlina AB
Biomolecules; 2021 Jun; 11(7):. PubMed ID: 34199132
[TBL] [Abstract][Full Text] [Related]
6. Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients.
Daitx VV; Mezzalira J; Moraes Vda C; Breier AC; Cé J; Coelho JC
Clin Chim Acta; 2015 May; 445():60-4. PubMed ID: 25804996
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study.
Inoue T; Hattori K; Ihara K; Ishii A; Nakamura K; Hirose S
J Hum Genet; 2013 Aug; 58(8):548-52. PubMed ID: 23677059
[TBL] [Abstract][Full Text] [Related]
9. [Fabry disease: enzymatic screening using dried blood spots on filter paper].
Caudron E; Germain DP; Prognon P
Rev Med Interne; 2010 Dec; 31 Suppl 2():S263-9. PubMed ID: 21211677
[TBL] [Abstract][Full Text] [Related]
10. Newborn screening for Fabry disease in the north-west of Spain.
Colon C; Ortolano S; Melcon-Crespo C; Alvarez JV; Lopez-Suarez OE; Couce ML; Fernández-Lorenzo JR
Eur J Pediatr; 2017 Aug; 176(8):1075-1081. PubMed ID: 28646478
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S; Buroker N; Cournoyer JJ; Potier AM; Trometer JD; Elbin C; Schermer MJ; Kantola J; Boyce A; Turecek F; Gelb MH; Scott CR
Mol Genet Metab; 2016 Aug; 118(4):304-9. PubMed ID: 27238910
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.
Nowak A; Mechtler T; Kasper DC; Desnick RJ
Mol Genet Metab; 2017 Aug; 121(4):320-324. PubMed ID: 28663131
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Testing the feasibility of fully automated chip-based nanoelectrospray ionization mass spectrometry as a novel tool for rapid diagnosis of Fabry disease.
Flangea C; Mosoarca C; Cozma C; Galusca M; Przybylski M; Zamfir AD
Electrophoresis; 2013 Jun; 34(11):1572-80. PubMed ID: 23483567
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Comparision of fluorimetric and mass spectrometric methods for Fabry disease newborn screening.
Orlov DS; Nazarenko LP; Didenko LI; Seitova GN
Klin Lab Diagn; 2022 Apr; 67(4):204-206. PubMed ID: 35575392
[TBL] [Abstract][Full Text] [Related]
19. Analysis of lyso-globotriaosylsphingosine in dried blood spots.
Johnson B; Mascher H; Mascher D; Legnini E; Hung CY; Dajnoki A; Chien YH; Maródi L; Hwu WL; Bodamer OA
Ann Lab Med; 2013 Jul; 33(4):274-8. PubMed ID: 23826564
[TBL] [Abstract][Full Text] [Related]
20. Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.
Fuller M; Mellett N; Hein LK; Brooks DA; Meikle PJ
Mol Genet Metab; 2015 Feb; 114(2):268-73. PubMed ID: 25468650
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]