Keutzer JM - Search Results

1

Establishing Pompe Disease Newborn Screening: The Role of Industry.

Keutzer JM. Keutzer JM. Int J Neonatal Screen. 2020 Jul 5;6(3):55. doi: 10.3390/ijns6030055. eCollection 2020 Sep. Int J Neonatal Screen. 2020. PMID: 33123636 Free PMC article. Review.

2

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. 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

3

[No title available]

[No authors listed] [No authors listed] PMID: 33239581

4

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. Chuang WL, et al. Among authors: keutzer jm. Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16. Clin Chim Acta. 2013. PMID: 23419961

5

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

Wang Z, Okamoto P, Keutzer J. Wang Z, et al. Mol Genet Metab. 2014 Feb;111(2):92-100. doi: 10.1016/j.ymgme.2013.08.010. Epub 2013 Aug 29. Mol Genet Metab. 2014. PMID: 24044919 Free article.

6

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. Kishnani PS, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):84-91. doi: 10.1016/j.ymgme.2014.07.014. Epub 2014 Jul 16. Mol Genet Metab. 2014. PMID: 25085280

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. Lévesque S, et al. Orphanet J Rare Dis. 2016 Jan 25;11:8. doi: 10.1186/s13023-016-0390-6. Orphanet J Rare Dis. 2016. PMID: 26809617 Free PMC article.

8

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. 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

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. Chien YH, et al. J Neuromuscul Dis. 2015;2(s1):S61-S62. J Neuromuscul Dis. 2015. PMID: 27858651 No abstract available.

10

Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.

Oliva P, Schwarz M, Mechtler TP, Sansen S, Keutzer J, Prusa AR, Streubel B, Kasper DC. Oliva P, et al. Mol Genet Metab. 2023 May;139(1):107563. doi: 10.1016/j.ymgme.2023.107563. Epub 2023 Mar 30. Mol Genet Metab. 2023. PMID: 37086570

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