Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 46

1.

Alpha galactosidase A activity in Parkinson's disease.

Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S, Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Oliva P, Keutzer J, Marder K, Zhang XK.

Neurobiol Dis. 2018 Apr;112:85-90. doi: 10.1016/j.nbd.2018.01.012. Epub 2018 Feb 2.

2.

Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Wolf P, Alcalay RN, Liong C, Cullen E, Pauciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Kate Zhang X, Keutzer JM, Oliva P.

Mol Genet Metab. 2018 Feb;123(2):135-139. doi: 10.1016/j.ymgme.2017.10.011. Epub 2017 Oct 23.

3.

Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.

Taguchi YV, Liu J, Ruan J, Pacheco J, Zhang X, Abbasi J, Keutzer J, Mistry PK, Chandra SS.

J Neurosci. 2017 Oct 4;37(40):9617-9631. doi: 10.1523/JNEUROSCI.1525-17.2017. Epub 2017 Aug 28.

4.

Letter to the Editor on Pastores et al. Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.

Keutzer J, Gruskin D.

Blood Cells Mol Dis. 2017 May;64:13-14. doi: 10.1016/j.bcmd.2017.02.008. Epub 2017 Mar 1. No abstract available.

PMID:
28301810
5.

Glucosylsphingosine is a key biomarker of Gaucher disease.

Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK.

Am J Hematol. 2016 Nov;91(11):1082-1089. doi: 10.1002/ajh.24491. Epub 2016 Aug 8.

6.

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.

Chuang WL, Pacheco J, Cooper S, Kingsbury JS, Hinds J, Wolf P, Oliva P, Keutzer J, Cox GF, Zhang K.

Mol Genet Metab Rep. 2015 Apr 17;3:55-7. doi: 10.1016/j.ymgmr.2015.04.001. eCollection 2015 Jun.

7.

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.

8.

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X.

Brain. 2015 Sep;138(Pt 9):2648-58. doi: 10.1093/brain/awv179. Epub 2015 Jun 27.

9.

Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.

Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P.

J Neuromuscul Dis. 2015;2(s1):S61-S62. No abstract available.

PMID:
27858651
10.

Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.

Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J.

Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16.

PMID:
25085280
11.

Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.

Mistry PK, Liu J, Sun L, Chuang WL, Yuen T, Yang R, Lu P, Zhang K, Li J, Keutzer J, Stachnik A, Mennone A, Boyer JL, Jain D, Brady RO, New MI, Zaidi M.

Proc Natl Acad Sci U S A. 2014 Apr 1;111(13):4934-9. doi: 10.1073/pnas.1400768111. Epub 2014 Mar 17.

12.

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK.

Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7.

PMID:
24418695
13.

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Lin SP, Lin HY, Wang TJ, Chang CY, Lin CH, Huang SF, Tsai CC, Liu HL, Keutzer J, Chuang CK.

Orphanet J Rare Dis. 2013 Sep 22;8:147. doi: 10.1186/1750-1172-8-147.

14.

A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.

Wang Z, Okamoto P, Keutzer J.

Mol Genet Metab. 2014 Feb;111(2):92-100. doi: 10.1016/j.ymgme.2013.08.010. Epub 2013 Aug 29.

15.

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.

Am J Med Genet A. 2013 Oct;161A(10):2431-43. doi: 10.1002/ajmg.a.36110. Epub 2013 Aug 30.

PMID:
23997011
16.

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. doi: 10.1016/j.jpeds.2013.01.031. Epub 2013 Mar 1.

17.

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.

J Proteome Res. 2013 May 3;12(5):2013-21. doi: 10.1021/pr301200e. Epub 2013 Apr 2.

PMID:
23464927
18.

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ Jr.

Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16.

PMID:
23419961
19.

Diagnosis of the mucopolysaccharidoses.

Lehman TJ, Miller N, Norquist B, Underhill L, Keutzer J.

Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v41-8. doi: 10.1093/rheumatology/ker390. Review.

PMID:
22210670
20.

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.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Review.

PMID:
21831684
21.

The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes.

Elbin CS, Olivova P, Marashio CA, Cooper SK, Cullen E, Keutzer JM, Zhang XK.

Clin Chim Acta. 2011 Jun 11;412(13-14):1207-12. doi: 10.1016/j.cca.2011.03.012. Epub 2011 Mar 17.

PMID:
21419758
22.

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 30;412(3-4):343-6. doi: 10.1016/j.cca.2010.11.006. Epub 2010 Nov 9. Erratum in: Clin Chim Acta. 2011 Nov 20;412(23-24):2358. Legini, Elisa [corrected to Legnini, Elisa].

PMID:
21070755
23.

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.

Mistry PK, Liu J, Yang M, Nottoli T, McGrath J, Jain D, Zhang K, Keutzer J, Chuang WL, Mehal WZ, Zhao H, Lin A, Mane S, Liu X, Peng YZ, Li JH, Agrawal M, Zhu LL, Blair HC, Robinson LJ, Iqbal J, Sun L, Zaidi M.

Proc Natl Acad Sci U S A. 2010 Nov 9;107(45):19473-8. doi: 10.1073/pnas.1003308107. Epub 2010 Oct 20. Erratum in: Proc Natl Acad Sci U S A. 2012 Jun 5;109(23):9220. Chuang, Wei-Lein [corrected to Chuang, Wei-Lien].

24.

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.

Chien YH, Olivova P, Zhang XK, Chiang SC, Lee NC, Keutzer J, Hwu WL.

Mol Genet Metab. 2011 Jan;102(1):57-60. doi: 10.1016/j.ymgme.2010.08.023. Epub 2010 Sep 6.

PMID:
20864368
25.

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Auray-Blais C, Ntwari A, Clarke JT, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu WL, Keutzer JM, Zhang XK, Gagnon R.

Clin Chim Acta. 2010 Dec 14;411(23-24):1906-14. doi: 10.1016/j.cca.2010.07.038. Epub 2010 Aug 14.

PMID:
20716442
26.

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 9;411(19-20):1428-31. doi: 10.1016/j.cca.2010.03.009. Epub 2010 Mar 22.

PMID:
20338160
27.

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.

Mol Genet Metab. 2010 Apr;99(4):379-83. doi: 10.1016/j.ymgme.2009.12.014. Epub 2009 Dec 28.

PMID:
20080426
28.

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.

29.

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL.

Pediatrics. 2009 Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667.

PMID:
19948615
30.

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. doi: 10.1016/j.clinbiochem.2009.01.022. Epub 2009 Feb 9.

PMID:
19318021
31.

Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.

Olivova P, van der Veen K, Cullen E, Rose M, Zhang XK, Sims KB, Keutzer J, Browning MF.

Clin Chim Acta. 2009 May;403(1-2):159-62. doi: 10.1016/j.cca.2009.02.008. Epub 2009 Feb 24.

PMID:
19245803
32.

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.

Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M.

Clin Chim Acta. 2009 Apr;402(1-2):38-41. doi: 10.1016/j.cca.2008.12.006. Epub 2008 Dec 13.

PMID:
19111682
33.

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH.

Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6.

PMID:
18988750
34.

An improved high-throughput dried blood spot screening method for Gaucher disease.

Olivova P, Cullen E, Titlow M, Kallwass H, Barranger J, Zhang K, Keutzer J.

Clin Chim Acta. 2008 Dec;398(1-2):163-4. doi: 10.1016/j.cca.2008.08.024. Epub 2008 Sep 9. No abstract available.

PMID:
18812173
35.

Enzyme replacement therapy for lysosomal storage disorders.

Keutzer J, Yee J.

Hum Gene Ther. 2008 Aug;19(8):857; author reply 858. doi: 10.1089/hum.2008.0714. No abstract available.

PMID:
18754711
36.

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.

Zhang XK, Elbin CS, Chuang WL, Cooper SK, Marashio CA, Beauregard C, Keutzer JM.

Clin Chem. 2008 Oct;54(10):1725-8. doi: 10.1373/clinchem.2008.104711. Epub 2008 Aug 21.

PMID:
18719200
37.

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. doi: 10.1373/clinchem.2008.107722. Epub 2008 Aug 14.

PMID:
18703766
38.

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, Chen CA, Wu MH, Huang PH, Tsai FJ, Chen YT, Hwu WL.

Pediatrics. 2008 Jul;122(1):e39-45. doi: 10.1542/peds.2007-2222. Epub 2008 Jun 2.

PMID:
18519449
39.

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.

Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19.

PMID:
18078773
40.

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.

Mol Genet Metab. 2007 Apr;90(4):449-52. Epub 2007 Jan 31. Erratum in: Mol Genet Metab. 2007 Nov;92(3):285.

PMID:
17270480
41.

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.

Genet Med. 2006 May;8(5):302-6.

PMID:
16702880
42.

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.

Mol Genet Metab. 2005 Jul;85(3):196-202. Epub 2005 Apr 26.

PMID:
15979031
43.

Regulated expression and functional role of the transcription factor CHOP (GADD153) in erythroid growth and differentiation.

Coutts M, Cui K, Davis KL, Keutzer JC, Sytkowski AJ.

Blood. 1999 May 15;93(10):3369-78.

PMID:
10233889
44.
45.
46.

The growth-regulated gene 1B6 is identified as the heavy chain of calpactin I.

Keutzer JC, Hirschhorn RR.

Exp Cell Res. 1990 May;188(1):153-9.

PMID:
2139416

Supplemental Content

Loading ...
Support Center