204 related articles for article (PubMed ID: 20338160)
1. 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]
2. 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]
3. 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]
4. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
Liao HC; Chiang CC; Niu DM; Wang CH; Kao SM; Tsai FJ; Huang YH; Liu HC; Huang CK; Gao HJ; Yang CF; Chan MJ; Lin WD; Chen YJ
Clin Chim Acta; 2014 Apr; 431():80-6. PubMed ID: 24513544
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
Dajnoki A; Mühl A; Fekete G; Keutzer J; Orsini J; Dejesus V; Zhang XK; Bodamer OA
Clin Chem; 2008 Oct; 54(10):1624-9. PubMed ID: 18703766
[TBL] [Abstract][Full Text] [Related]
7. Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.
Orsini JJ; Martin MM; Showers AL; Bodamer OA; Zhang XK; Gelb MH; Caggana M
Clin Chim Acta; 2012 Aug; 413(15-16):1270-3. PubMed ID: 22548856
[TBL] [Abstract][Full Text] [Related]
8. Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry.
Legnini E; Orsini JJ; Hung C; Martin M; Showers A; Scarpa M; Zhang XK; Keutzer J; Mühl A; Bodamer OA
Clin Chim Acta; 2011 Jan; 412(3-4):343-6. PubMed ID: 21070755
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.
Scott CR; Elliott S; Buroker N; Thomas LI; Keutzer J; Glass M; Gelb MH; Turecek F
J Pediatr; 2013 Aug; 163(2):498-503. PubMed ID: 23465405
[TBL] [Abstract][Full Text] [Related]
12. A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
Gucciardi A; Legnini E; Di Gangi IM; Corbetta C; Tomanin R; Scarpa M; Giordano G
Biomed Chromatogr; 2014 Aug; 28(8):1131-9. PubMed ID: 24449175
[TBL] [Abstract][Full Text] [Related]
13. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
Burlina AB; Polo G; Salviati L; Duro G; Zizzo C; Dardis A; Bembi B; Cazzorla C; Rubert L; Zordan R; Desnick RJ; Burlina AP
J Inherit Metab Dis; 2018 Mar; 41(2):209-219. PubMed ID: 29143201
[TBL] [Abstract][Full Text] [Related]
14. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.
Magera MJ; Gunawardena ND; Hahn SH; Tortorelli S; Mitchell GA; Goodman SI; Rinaldo P; Matern D
Mol Genet Metab; 2006 May; 88(1):16-21. PubMed ID: 16448836
[TBL] [Abstract][Full Text] [Related]
15. New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.
la Marca G; Casetta B; Malvagia S; Guerrini R; Zammarchi E
Anal Chem; 2009 Aug; 81(15):6113-21. PubMed ID: 19555116
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots.
Allard P; Grenier A; Korson MS; Zytkovicz TH
Clin Biochem; 2004 Nov; 37(11):1010-5. PubMed ID: 15498530
[TBL] [Abstract][Full Text] [Related]
18. A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).
Duffey TA; Bellamy G; Elliott S; Fox AC; Glass M; Turecek F; Gelb MH; Scott CR
Clin Chem; 2010 Dec; 56(12):1854-61. PubMed ID: 20940330
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. Implementation of newborn screening for Krabbe disease: population study and cutoff determination.
Orsini JJ; Morrissey MA; Slavin LN; Wojcik M; Biski C; Martin M; Keutzer J; Zhang XK; Chuang WL; Elbin C; Caggana M
Clin Biochem; 2009 Jun; 42(9):877-84. PubMed ID: 19318021
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
