PubMed (GeneRIF) for id: 2548

Year	Number of Results
2002	2
2003	2
2004	3
2005	3
2006	3
2007	7
2008	7
2009	6
2010	4
2011	2
2012	3
2013	6
2014	7
2015	4
2016	5
2017	8
2018	6
2019	4
2020	8
2021	8
2022	3
2023	3
2024	0

1

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.

2

Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B).

Wirth T, Clément G, Delvallée C, Bonnet C, Bogdan T, Iosif A, Schalk A, Chanson JB, Pellerin D, Brais B, Roth V, Wandzel M, Fleury MC, Piton A, Calmels N, Namer IJ, Kremer S, Tranchant C, Renaud M, Anheim M. Wirth T, et al. Mov Disord. 2023 Oct;38(10):1950-1956. doi: 10.1002/mds.29560. Epub 2023 Jul 20. Mov Disord. 2023. PMID: 37470282

3

Phase I study of liver depot gene therapy in late-onset Pompe disease.

Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Smith EC, et al. Mol Ther. 2023 Jul 5;31(7):1994-2004. doi: 10.1016/j.ymthe.2023.02.014. Epub 2023 Feb 18. Mol Ther. 2023. PMID: 36805083 Clinical Trial.

4

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.

Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY. Kan SH, et al. Sci Rep. 2022 Dec 14;12(1):21576. doi: 10.1038/s41598-022-25914-8. Sci Rep. 2022. PMID: 36517654 Free PMC article.

5

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Chawla T, Preethish-Kumar V, Polavarapu K, Vengalil S, Bardhan M, Puri R, Verma J, Christopher R, Supriya M, Nashi S, Prasad C, Nadeesh B, Nalini A. Chawla T, et al. J Neuromuscul Dis. 2022;9(2):261-273. doi: 10.3233/JND-210728. J Neuromuscul Dis. 2022. PMID: 34864681

6

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.

Amiñoso C, Solera J. Amiñoso C, et al. Gene. 2022 Jan 15;808:145967. doi: 10.1016/j.gene.2021.145967. Epub 2021 Sep 14. Gene. 2022. PMID: 34530085

7

Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. Niño MY, et al. Hum Mutat. 2021 Nov;42(11):1461-1472. doi: 10.1002/humu.24272. Epub 2021 Sep 8. Hum Mutat. 2021. PMID: 34405923 Free PMC article.

8

Phenotypic implications of pathogenic variant types in Pompe disease.

Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB. Viamonte MA, et al. J Hum Genet. 2021 Nov;66(11):1089-1099. doi: 10.1038/s10038-021-00935-9. Epub 2021 May 11. J Hum Genet. 2021. PMID: 33972680

9

Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase.

Selvan N, Mehta N, Venkateswaran S, Brignol N, Graziano M, Sheikh MO, McAnany Y, Hung F, Madrid M, Krampetz R, Siano N, Mehta A, Brudvig J, Gotschall R, Weimer JM, Do HV. Selvan N, et al. J Biol Chem. 2021 Jan-Jun;296:100769. doi: 10.1016/j.jbc.2021.100769. Epub 2021 May 8. J Biol Chem. 2021. PMID: 33971197 Free PMC article.

10

Suppression of lysosomal acid alpha-glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer.

Hamura R, Shirai Y, Shimada Y, Saito N, Taniai T, Horiuchi T, Takada N, Kanegae Y, Ikegami T, Ohashi T, Yanaga K. Hamura R, et al. Cancer Sci. 2021 Jun;112(6):2335-2348. doi: 10.1111/cas.14921. Epub 2021 May 3. Cancer Sci. 2021. PMID: 33931930 Free PMC article.

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