Similar articles for PMID: 29122469

Year	Number of Results
2002	1
2007	3
2008	3
2009	7
2010	4
2011	3
2012	5
2013	8
2014	7
2015	8
2016	7
2017	9
2018	10
2019	12
2020	10
2021	9
2022	7
2023	3
2024	0

1

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.

2

Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.

Sniderman King L, Pan Y, Nallamilli BRR, Hegde M, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R. Sniderman King L, et al. Mol Genet Metab. 2023 May;139(1):107565. doi: 10.1016/j.ymgme.2023.107565. Epub 2023 Apr 5. Mol Genet Metab. 2023. PMID: 37087815 Free article.

3

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Johnson K, et al. Orphanet J Rare Dis. 2017 Nov 17;12(1):173. doi: 10.1186/s13023-017-0722-1. Orphanet J Rare Dis. 2017. PMID: 29149851 Free PMC article.

4

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.

Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V. Savarese M, et al. Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9. Neuromuscul Disord. 2018. PMID: 29880332 Free article.

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. Preisler N, et al. Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15. Mol Genet Metab. 2013. PMID: 24011652

6

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J. Ngiwsara L, et al. BMC Med Genet. 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8. BMC Med Genet. 2019. PMID: 31510962 Free PMC article.

7

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.

Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH. Chan MY, et al. Orphanet J Rare Dis. 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. Orphanet J Rare Dis. 2023. PMID: 37542277 Free PMC article.

8

Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.

Musumeci O, Thieme A, Claeys KG, Wenninger S, Kley RA, Kuhn M, Lukacs Z, Deschauer M, Gaeta M, Toscano A, Gläser D, Schoser B. Musumeci O, et al. Neuromuscul Disord. 2015 Sep;25(9):719-24. doi: 10.1016/j.nmd.2015.07.002. Epub 2015 Jul 10. Neuromuscul Disord. 2015. PMID: 26231297

9

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.

Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K. Momosaki K, et al. J Hum Genet. 2019 Aug;64(8):741-755. doi: 10.1038/s10038-019-0603-7. Epub 2019 May 10. J Hum Genet. 2019. PMID: 31076647 Review.

10

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. Wens SC, et al. Mol Genet Metab. 2012 Nov;107(3):485-9. doi: 10.1016/j.ymgme.2012.09.003. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23000108

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