14695532,22237443,23601496,25155446,26873529,28838325,29122469,29181627,30155607[uid] - Search Results

Year	Number of Results
2004	1
2012	1
2013	1
2015	1
2016	1
2017	3
2018	2
2024	0

1

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

Hermans MM, van Leenen D, Kroos MA, Beesley CE, Van Der Ploeg AT, Sakuraba H, Wevers R, Kleijer W, Michelakakis H, Kirk EP, Fletcher J, Bosshard N, Basel-Vanagaite L, Besley G, Reuser AJ. Hermans MM, et al. Hum Mutat. 2004 Jan;23(1):47-56. doi: 10.1002/humu.10286. Hum Mutat. 2004. PMID: 14695532

2

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Messinger YH, et al. Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4. Genet Med. 2012. PMID: 22237443 Free PMC article.

3

B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

Elder ME, Nayak S, Collins SW, Lawson LA, Kelley JS, Herzog RW, Modica RF, Lew J, Lawrence RM, Byrne BJ. Elder ME, et al. J Pediatr. 2013 Sep;163(3):847-54.e1. doi: 10.1016/j.jpeds.2013.03.002. Epub 2013 Apr 16. J Pediatr. 2013. PMID: 23601496 Free PMC article. Clinical Trial.

4

Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.

Horvath JJ, Austin SL, Case LE, Greene KB, Jones HN, Soher BJ, Kishnani PS, Bashir MR. Horvath JJ, et al. Muscle Nerve. 2015 May;51(5):722-30. doi: 10.1002/mus.24437. Epub 2015 Mar 26. Muscle Nerve. 2015. PMID: 25155446

5

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.

Stepien KM, Hendriksz CJ, Roberts M, Sharma R. Stepien KM, et al. Mol Genet Metab. 2016 Apr;117(4):413-8. doi: 10.1016/j.ymgme.2016.01.013. Epub 2016 Feb 4. Mol Genet Metab. 2016. PMID: 26873529

6

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease.

Byrne BJ, Geberhiwot T, Barshop BA, Barohn R, Hughes D, Bratkovic D, Desnuelle C, Laforet P, Mengel E, Roberts M, Haroldsen P, Reilley K, Jayaram K, Yang K, Walsh L; POM-001/002 Investigators. Byrne BJ, et al. Orphanet J Rare Dis. 2017 Aug 24;12(1):144. doi: 10.1186/s13023-017-0693-2. Orphanet J Rare Dis. 2017. PMID: 28838325 Free PMC article. Clinical Trial.

7

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Mori M, et al. Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17. Mol Genet Metab. 2017. PMID: 29122469 Free PMC article.

8

Pompe disease in Austria: clinical, genetic and epidemiological aspects.

Löscher WN, Huemer M, Stulnig TM, Simschitz P, Iglseder S, Eggers C, Moser H, Möslinger D, Freilinger M, Lagler F, Grinzinger S, Reichhardt M, Bittner RE, Schmidt WM, Lex U, Brunner-Krainz M, Quasthoff S, Wanschitz JV. Löscher WN, et al. J Neurol. 2018 Jan;265(1):159-164. doi: 10.1007/s00415-017-8686-6. Epub 2017 Nov 27. J Neurol. 2018. PMID: 29181627 Free PMC article.

9

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C, Letard P, De Antonio M, Taouagh N, Perniconi B, Bouhour F, Echaniz-Laguna A, Orlikowski D, Sacconi S, Salort-Campana E, Solé G, Zagnoli F, Hamroun D, Froissart R, Caillaud C, Laforêt P; French Pompe Study Group. Semplicini C, et al. J Inherit Metab Dis. 2018 Nov;41(6):937-946. doi: 10.1007/s10545-018-0243-7. Epub 2018 Aug 28. J Inherit Metab Dis. 2018. PMID: 30155607

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