Similar articles for PMID: 32071926

Year	Number of Results
1998	1
2002	1
2004	1
2005	1
2006	3
2007	5
2008	2
2009	1
2011	2
2012	5
2013	6
2014	8
2015	8
2016	3
2017	11
2018	11
2019	13
2020	7
2021	7
2022	2
2023	1
2024	0

1

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. In 't Groen SLM, et al. Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. doi: 10.1016/j.omtm.2019.12.016. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2020. PMID: 32071926 Free PMC article.

2

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. Nilsson MI, et al. Gene. 2014 Mar 1;537(1):41-5. doi: 10.1016/j.gene.2013.12.033. Epub 2013 Dec 30. Gene. 2014. PMID: 24384324

3

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Niño MY, In 't Groen SLM, Bergsma AJ, van der Beek NAME, Kroos M, Hoogeveen-Westerveld M, van der Ploeg AT, Pijnappel WWMP. Niño MY, et al. Hum Mutat. 2019 Nov;40(11):1954-1967. doi: 10.1002/humu.23854. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31254424 Free PMC article.

4

Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy.

Amiñoso C, Gordillo-Marañón M, Hernández J, Solera J. Amiñoso C, et al. Neuromuscul Disord. 2019 Mar;29(3):187-191. doi: 10.1016/j.nmd.2018.12.003. Epub 2018 Dec 15. Neuromuscul Disord. 2019. PMID: 30770309

5

Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.

Gal A, Grosz Z, Borsos B, Szatmari I, Sebők A, Jávor L, Harmath V, Szakszon K, Dezsi L, Balku E, Jobbagy Z, Herczegfalvi A, Almássy Z, Kerényi L, Molnar MJ. Gal A, et al. Life (Basel). 2021 May 31;11(6):507. doi: 10.3390/life11060507. Life (Basel). 2021. PMID: 34072668 Free PMC article.

6

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Fukuhara Y, Fuji N, Yamazaki N, Hirakiyama A, Kamioka T, Seo JH, Mashima R, Kosuga M, Okuyama T. Fukuhara Y, et al. Mol Genet Metab Rep. 2017 Oct 31;14:3-9. doi: 10.1016/j.ymgmr.2017.10.009. eCollection 2018 Mar. Mol Genet Metab Rep. 2017. PMID: 29124014 Free PMC article.

7

Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Hernández-Arévalo P, Santotoribio JD, Delarosa-Rodríguez R, González-Meneses A, García-Morillo S, Jiménez-Arriscado P, Guerrero JM, Macher HC. Hernández-Arévalo P, et al. Orphanet J Rare Dis. 2021 May 21;16(1):233. doi: 10.1186/s13023-021-01864-8. Orphanet J Rare Dis. 2021. PMID: 34020684 Free PMC article.

8

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Goomber S, Huggins E, Rehder CW, Cohen JL, Bali DS, Kishnani PS. Goomber S, et al. Front Genet. 2022 Sep 30;13:1001154. doi: 10.3389/fgene.2022.1001154. eCollection 2022. Front Genet. 2022. PMID: 36246652 Free PMC article.

9

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

10

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).

Rakib TM, Islam MS, Tanaka S, Yabuki A, Pervin S, Maki S, Faruq AA, Tacharina MR, Yamato O. Rakib TM, et al. Animals (Basel). 2023 Apr 13;13(8):1336. doi: 10.3390/ani13081336. Animals (Basel). 2023. PMID: 37106898 Free PMC article.

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