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Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Taverna S, et al. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3. Aging (Albany NY). 2020. PMID: 32745073 Free PMC article. Review.
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reporte …
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and …
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M. Labella B, et al. Biomolecules. 2023 Aug 22;13(9):1279. doi: 10.3390/biom13091279. Biomolecules. 2023. PMID: 37759679 Free PMC article. Review.
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pom …
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the aci …
Advances in diagnosis and management of Pompe disease.
Davison JE. Davison JE. J Mother Child. 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. J Mother Child. 2020. PMID: 33554498 Free PMC article. Review.
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequent progressive glycogen accumulation due to mutations in the GAA gene. Pompe disease manifests with a broad spectrum of disease …
Pompe disease is an autosomal recessive lysosomal glycogen storage disorder caused by the deficiency of acid alpha-glucosidase and subsequen …
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.
Identification of variants in the acid alpha-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. ...
Identification of variants in the acid alpha-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic …
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M, Tran ML, Génisson Y, Ballereau S, Dehoux C. Borie-Guichot M, et al. Molecules. 2021 Nov 29;26(23):7223. doi: 10.3390/molecules26237223. Molecules. 2021. PMID: 34885805 Free PMC article. Review.
Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in cardiac, smo …
Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha …
Gene Therapy for Pompe Disease: The Time is now.
Colella P, Mingozzi F. Colella P, et al. Hum Gene Ther. 2019 Oct;30(10):1245-1262. doi: 10.1089/hum.2019.109. Epub 2019 Sep 9. Hum Gene Ther. 2019. PMID: 31298581 Review.
The limited uptake of the enzyme in key affected tissues and the high immunogenicity of rhGAA are some of the hurdles that limit ERT efficacy. GAA gene transfer with adeno-associated virus (AAV) vectors has been shown to reduce glycogen storage and improve the PD ph …
The limited uptake of the enzyme in key affected tissues and the high immunogenicity of rhGAA are some of the hurdles that limit ERT efficac …
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.
Here, we summarized this screening program and described the results of the GAA gene analysis. From April 2013 to November 2016, 103,204 newborns were screened; 71 had low acid alpha-glucosidase (AalphaGlu) activity. ...In the literature, 156 variants have been repo …
Here, we summarized this screening program and described the results of the GAA gene analysis. From April 2013 to November 201 …
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S, Vinatzer U, Liebmann-Reindl S, Lux M, Oliva P, Sansen S, Mechtler T, Kasper DC, Streubel B. Balendran-Braun S, et al. Hum Mutat. 2024 Oct 22;2024:6248437. doi: 10.1155/2024/6248437. eCollection 2024. Hum Mutat. 2024. PMID: 40225932 Free PMC article.
Pompe disease (PD) is a rare autosomal recessive lysosomal disorder caused by loss-of-function of the alpha-glucosidase (GAA) gene. The deficient GAA enzyme activity may result in potential life-threatening muscle weakness, thus requiring a rapid diagnosis to initia …
Pompe disease (PD) is a rare autosomal recessive lysosomal disorder caused by loss-of-function of the alpha-glucosidase (GAA) gene …
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
Giugliani R, Solomon F, Kushlaf H, Wright E, Haselkorn T, Zanoteli E, Schoser B. Giugliani R, et al. Orphanet J Rare Dis. 2025 May 6;20(1):216. doi: 10.1186/s13023-025-03679-3. Orphanet J Rare Dis. 2025. PMID: 40329343 Free PMC article.
BACKGROUND: Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid alpha-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic region. ...
BACKGROUND: Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid alpha-glucosidase (GAA …
84 results