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Items: 1 to 20 of 97

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.

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

PMID:
18078773
2.

Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease.

Umapathysivam K, Hopwood JJ, Meikle PJ.

Clin Chem. 2001 Aug;47(8):1378-83.

3.

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

Lukacs Z, Nieves Cobos P, Mengel E, Hartung R, Beck M, Deschauer M, Keil A, Santer R.

J Inherit Metab Dis. 2010 Feb;33(1):43-50. doi: 10.1007/s10545-009-9003-z. Epub 2009 Dec 23.

PMID:
20033296
4.

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
5.

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ.

Mol Genet Metab. 2006 May;88(1):22-8. Epub 2005 Dec 15.

PMID:
16359900
6.

Late onset form of Pompe disease.

Mattosova S, Hlavata A, Spalek P, Kotysova L, Macekova D, Chandoga J.

Bratisl Lek Listy. 2015;116(8):502-5.

PMID:
26350092
7.

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
8.

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS.

Muscle Nerve. 2009 Jul;40(1):32-6. doi: 10.1002/mus.21376.

PMID:
19533645
9.

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.

Nilsson MI, Kroos MA, Reuser AJ, Hatcher E, Akhtar M, McCready ME, Tarnopolsky MA.

Gene. 2014 Mar 1;537(1):41-5. doi: 10.1016/j.gene.2013.12.033. Epub 2013 Dec 30.

PMID:
24384324
10.

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

van Diggelen OP, Oemardien LF, van der Beek NA, Kroos MA, Wind HK, Voznyi YV, Burke D, Jackson M, Winchester BG, Reuser AJ.

J Inherit Metab Dis. 2009 Jun;32(3):416-23. doi: 10.1007/s10545-009-1082-3. Epub 2009 Apr 19.

PMID:
19387865
11.

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.

12.

[Establishment and clinical application of dried blood spots and mixed leukocytes for determination of acid alpha-glucosidase activity].

Qiu WJ, Wang X, Wang Y, Ye J, Han LS, Zhang HW, Gu XF.

Zhonghua Er Ke Za Zhi. 2010 Jan;48(1):55-9. Chinese.

PMID:
20441705
13.
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.
16.

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.

Wens SC, Kroos MA, de Vries JM, Hoogeveen-Westerveld M, Wijgerde MG, van Doorn PA, van der Ploeg AT, Reuser AJ.

Mol Genet Metab. 2012 Nov;107(3):485-9. doi: 10.1016/j.ymgme.2012.09.003. Epub 2012 Sep 7.

PMID:
23000108
17.

Newborn screening for Pompe disease in Japan.

Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T.

Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10.

PMID:
21963784
18.

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
19.

Pompe disease: design, methodology, and early findings from the Pompe Registry.

Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A.

Mol Genet Metab. 2011 May;103(1):1-11. doi: 10.1016/j.ymgme.2011.02.004. Epub 2011 Feb 11. Erratum in: Mol Genet Metab. 2011 Nov;104(3):424.

PMID:
21439876
20.

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

Hamdan MA, Almalik MH, Mirghani HM.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S431-6. doi: 10.1007/s10545-008-1000-0. Epub 2008 Dec 12.

PMID:
19067231

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