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Items: 19

1.

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C.

Clin Chem. 2017 Apr;63(4):842-851. doi: 10.1373/clinchem.2016.259036. Epub 2017 Feb 14.

2.

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry.

Mashima R, Sakai E, Kosuga M, Okuyama T.

Mol Genet Metab Rep. 2016 Aug 31;9:6-11. doi: 10.1016/j.ymgmr.2016.08.007. eCollection 2016 Dec.

3.

Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.

Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A, Mathieu J, Maranda B, Désilets V, Waters PJ, Keutzer J, Austin S, Kishnani P.

Orphanet J Rare Dis. 2016 Jan 25;11:8. doi: 10.1186/s13023-016-0390-6.

4.

Newborn screening for lysosomal storage diseases.

Gelb MH, Scott CR, Turecek F.

Clin Chem. 2015 Feb;61(2):335-46. doi: 10.1373/clinchem.2014.225771. Epub 2014 Dec 4. Review.

5.

Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry.

Chennamaneni NK, Kumar AB, Barcenas M, Spáčil Z, Scott CR, Tureček F, Gelb MH.

Anal Chem. 2014 May 6;86(9):4508-14. doi: 10.1021/ac5004135. Epub 2014 Apr 21.

6.

Newborn screening for hunter disease: a small-scale feasibility study.

Ruijter GJ, Goudriaan DA, Boer AM, Van den Bosch J, Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ.

JIMD Rep. 2014;14:23-7. doi: 10.1007/8904_2013_279. Epub 2013 Nov 23.

7.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G.

Orphanet J Rare Dis. 2013 Oct 10;8:159. doi: 10.1186/1750-1172-8-159.

8.

Newborn screening for lysosomal storage disorders in hungary.

Wittmann J, Karg E, Turi S, Legnini E, Wittmann G, Giese AK, Lukas J, Gölnitz U, Klingenhäger M, Bodamer O, Mühl A, Rolfs A.

JIMD Rep. 2012;6:117-25. doi: 10.1007/8904_2012_130. Epub 2012 Mar 21.

9.

Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.

Mechtler TP, Metz TF, Müller HG, Ostermann K, Ratschmann R, De Jesus VR, Shushan B, Di Bussolo JM, Herman JL, Herkner KR, Kasper DC.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Nov 1;908:9-17. doi: 10.1016/j.jchromb.2012.09.012. Epub 2012 Sep 24.

10.

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 16;413(15-16):1270-3. doi: 10.1016/j.cca.2012.04.012. Epub 2012 Apr 21.

11.

Public support for neonatal screening for Pompe disease, a broad-phenotype condition.

Weinreich SS, Rigter T, van El CG, Dondorp WJ, Kostense PJ, van der Ploeg AT, Reuser AJ, Cornel MC, Hagemans ML.

Orphanet J Rare Dis. 2012 Mar 14;7:15. doi: 10.1186/1750-1172-7-15.

12.
13.

Lysosomal storage disorders: molecular basis and laboratory testing.

Filocamo M, Morrone A.

Hum Genomics. 2011 Mar;5(3):156-69. Review.

14.

Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.

Sowell J, Wood T.

Anal Chim Acta. 2011 Feb 7;686(1-2):102-6. doi: 10.1016/j.aca.2010.11.047. Epub 2010 Dec 7.

15.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

Wolfe BJ, Blanchard S, Sadilek M, Scott CR, Turecek F, Gelb MH.

Anal Chem. 2011 Feb 1;83(3):1152-6. doi: 10.1021/ac102777s. Epub 2010 Dec 30.

16.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Duffey TA, Sadilek M, Scott CR, Turecek F, Gelb MH.

Anal Chem. 2010 Nov 15;82(22):9587-91. doi: 10.1021/ac102090v. Epub 2010 Oct 20.

17.

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. doi: 10.1373/clinchem.2010.152009. Epub 2010 Oct 12.

18.

Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry.

Zhang XK, Elbin CS, Turecek F, Scott R, Chuang WL, Keutzer JM, Gelb M.

Methods Mol Biol. 2010;603:339-50. doi: 10.1007/978-1-60761-459-3_32.

19.

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