Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 312

1.

Diagnostic criteria for late-onset (childhood and adult) Pompe disease.

American Association of Neuromuscular & Electrodiagnostic Medicine.

Muscle Nerve. 2009 Jul;40(1):149-60. doi: 10.1002/mus.21393.

PMID:
19533647
2.

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Müller-Felber W, Horvath R, Gempel K, Podskarbi T, Shin Y, Pongratz D, Walter MC, Baethmann M, Schlotter-Weigel B, Lochmüller H, Schoser B.

Neuromuscul Disord. 2007 Oct;17(9-10):698-706. Epub 2007 Jul 23.

PMID:
17643989
3.

[A retrospective study of six patients with late-onset Pompe disease].

Saux A, Laforet P, Pagès AM, Figarella-Branger D, Pellissier JF, Pagès M, Labauge P.

Rev Neurol (Paris). 2008 Apr;164(4):336-42. doi: 10.1016/j.neurol.2007.09.008. French.

PMID:
18439925
4.

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
5.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.

Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.

Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15.

PMID:
24011652
6.

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
7.

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.

8.

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

Lukacs Z, Nieves Cobos P, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Müller-Felber W, Schoser B.

Neurology. 2016 Jul 19;87(3):295-8. doi: 10.1212/WNL.0000000000002758. Epub 2016 May 11.

9.

The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.

Ünver O, Hacıfazlıoğlu NE, Karatoprak E, Güneş AS, Sağer G, Kutlubay B, Sözen G, Saltık S, Yılmaz K, Kara B, Türkdoğan D.

Neuromuscul Disord. 2016 Nov;26(11):796-800. doi: 10.1016/j.nmd.2016.09.001. Epub 2016 Sep 6.

PMID:
27666774
10.

Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.

Grzesiuk AK, Shinjo SM, da Silva R, Machado M, Galera MF, Marie SK.

Arq Neuropsiquiatr. 2010 Apr;68(2):194-7.

11.

Screening for late-onset Pompe disease in Finland.

Palmio J, Auranen M, Kiuru-Enari S, Löfberg M, Bodamer O, Udd B.

Neuromuscul Disord. 2014 Nov;24(11):982-5. doi: 10.1016/j.nmd.2014.06.438. Epub 2014 Jun 28.

PMID:
25047669
12.

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.

Gutiérrez-Rivas E, Bautista J, Vílchez JJ, Muelas N, Díaz-Manera J, Illa I, Martínez-Arroyo A, Olivé M, Sanz I, Arpa J, Fernández-Torrón R, López de Munáin A, Jiménez L, Solera J, Lukacs Z.

Neuromuscul Disord. 2015 Jul;25(7):548-53. doi: 10.1016/j.nmd.2015.04.008. Epub 2015 Apr 23.

PMID:
25998610
13.

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.

Kroos MA, Pomponio RJ, Hagemans ML, Keulemans JL, Phipps M, DeRiso M, Palmer RE, Ausems MG, Van der Beek NA, Van Diggelen OP, Halley DJ, Van der Ploeg AT, Reuser AJ.

Neurology. 2007 Jan 9;68(2):110-5.

PMID:
17210890
14.

Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.

Katzin LW, Amato AA.

J Clin Neuromuscul Dis. 2008 Jun;9(4):421-31. doi: 10.1097/CND.0b013e318176dbe4. Review.

PMID:
18525427
15.

[Diagnosis recommendations for late-onset Pompe disease].

Brito-Avô L, Alves JD, Costa JM, Valverde A, Santos L, Araújo F, Aguiar P, Marinho A, Oliveira A, Gomes D.

Acta Med Port. 2014 Jul-Aug;27(4):525-9. Epub 2014 Aug 29. Portuguese.

16.

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
17.

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.

Palmer RE, Amartino HM, Niizawa G, Blanco M, Pomponio RJ, Chamoles NA.

Neuromuscul Disord. 2007 Jan;17(1):16-22. Epub 2006 Oct 23.

PMID:
17056254
18.

Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.

Whitaker CH, Felice KJ, Natowicz M.

Muscle Nerve. 2004 Mar;29(3):440-2.

PMID:
14981745
19.

Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.

Matalon R, Surendran S, Campbell GA, Michals-Matalon K, Tyring SK, Grady J, Cheng S, Kaye E.

Biochem Biophys Res Commun. 2006 Nov 24;350(3):783-7. Epub 2006 Oct 2.

PMID:
17027913
20.

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.

Supplemental Content

Support Center