Keutzer J - Search Results

1

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: keutzer j. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

2

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.

Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Mills K, Winchester B, Keutzer J. Kitagawa T, et al. Among authors: keutzer j. Mol Genet Metab. 2005 Jul;85(3):196-202. doi: 10.1016/j.ymgme.2005.01.007. Epub 2005 Apr 26. Mol Genet Metab. 2005. PMID: 15979031

3

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.

Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D. Zhang H, et al. Among authors: keutzer j. Genet Med. 2006 May;8(5):302-6. doi: 10.1097/01.gim.0000217781.66786.9b. Genet Med. 2006. PMID: 16702880 Free article.

4

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J. Kallwass H, et al. Among authors: keutzer j. Mol Genet Metab. 2007 Apr;90(4):449-52. doi: 10.1016/j.ymgme.2006.12.006. Epub 2007 Jan 31. Mol Genet Metab. 2007. PMID: 17270480

5

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. Dajnoki A, et al. Among authors: keutzer j. Clin Chem. 2008 Oct;54(10):1624-9. doi: 10.1373/clinchem.2008.107722. Epub 2008 Aug 14. Clin Chem. 2008. PMID: 18703766

6

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL. Labrousse P, et al. Among authors: keutzer j. Mol Genet Metab. 2010 Apr;99(4):379-83. doi: 10.1016/j.ymgme.2009.12.014. Epub 2009 Dec 28. Mol Genet Metab. 2010. PMID: 20080426

7

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. Dajnoki A, et al. Among authors: keutzer j. Clin Chim Acta. 2010 Oct 9;411(19-20):1428-31. doi: 10.1016/j.cca.2010.03.009. Epub 2010 Mar 22. Clin Chim Acta. 2010. PMID: 20338160

8

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Among authors: keutzer j. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

9

The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.

Manwaring V, Heywood WE, Clayton R, Lachmann RH, Keutzer J, Hindmarsh P, Winchester B, Heales S, Mills K. Manwaring V, et al. Among authors: keutzer j. J Proteome Res. 2013 May 3;12(5):2013-21. doi: 10.1021/pr301200e. Epub 2013 Apr 2. J Proteome Res. 2013. PMID: 23464927

10

Timing of diagnosis of patients with Pompe disease: data from the Pompe registry.

Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J; Pompe Registry Boards of Advisors. Kishnani PS, et al. Among authors: keutzer j. Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30. Am J Med Genet A. 2013. PMID: 23997011

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