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Items: 1 to 20 of 2429

1.
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Tofazzal Md Rakib, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina, Osamu Yamato
Animals (Basel) 2023 Apr; 13(8): 1336. Published online 2023 Apr 13. doi: 10.3390/ani13081336
PMCID:
PMC10135178
ArticlePDF–1.8M
2.
Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease)
Huiting Zhang, Jun Chen, Yuchang Zhu, Xiaotang Ma, Wangtao Zhong
Front Neurol. 2022; 13: 839263. Published online 2022 Mar 21. doi: 10.3389/fneur.2022.839263
PMCID:
PMC8977516
ArticlePDF–2.1M
3.
Altered electrical properties in skeletal muscle of mice with glycogen storage disease type II
Janice A. Nagy, Carson Semple, Daniela Riveros, Benjamin Sanchez, Seward B. Rutkove
Sci Rep. 2022; 12: 5327. Published online 2022 Mar 29. doi: 10.1038/s41598-022-09328-0
PMCID:
PMC8964715
ArticlePDF–2.5M
4.
3例糖原贮积症Ⅱ型患儿的临床特点及GAA基因突变分析
袁 姗, 江 杰, 查 鹭婷, 杨 作成
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct 25; 19(10): 1092–1097. Chinese. doi: 10.7499/j.issn.1008-8830.2017.10.012
PMCID:
PMC7389288
ArticlePDF–2.0M
5.
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series
Lingling Xu, Hongjun Ba, Yuxin Pei, Xueqiong Huang, Yujian Liang, Lidan Zhang, Huimin Huang, Cheng Zhang, Wen Tang
Ital J Pediatr. 2019; 45: 106. Published online 2019 Aug 22. doi: 10.1186/s13052-019-0692-0
PMCID:
PMC6704633
ArticlePDF–610K
6.
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience
Hiew Fu Liong, Siti Aishah Abdul Wahab, Yusnita Yakob, Ngu Lock Hock, Wong Kum Thong, Shanthi Viswanathan
Case Rep Neurol Med. 2014; 2014: 926510. Published online 2014 Jun 30. doi: 10.1155/2014/926510
PMCID:
PMC4100255
ArticlePDF–1.1M
7.
Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy
Mauro Marzorati, Simone Porcelli, Giuseppe Bellistri, Lucia Morandi, Bruno Grassi
Neuromuscul Disord. 2012 Dec 1; 22(1): S230–S234. doi: 10.1016/j.nmd.2012.10.017
PMCID:
PMC3527663
Article
8.
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
A C Nascimbeni, M Fanin, E Masiero, C Angelini, M Sandri
Cell Death Differ. 2012 Oct; 19(10): 1698–1708. Published online 2012 May 18. doi: 10.1038/cdd.2012.52
PMCID:
PMC3438501
ArticlePDF–983K
9.
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes
Stefania Zampieri, Emanuele Buratti, Silvia Dominissini, Anna Lisa Montalvo, Maria Gabriela Pittis, Bruno Bembi, Andrea Dardis
Eur J Hum Genet. 2011 Apr; 19(4): 422–431. Published online 2010 Dec 22. doi: 10.1038/ejhg.2010.188
PMCID:
PMC3060314
ArticlePDF–571K
10.
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II
Corrado Angelini, Claudio Semplicini, Paola Tonin, Massimiliano Filosto, Elena Pegoraro, Gianni Sorarù, Marina Fanin
Ther Adv Neurol Disord. 2009 May; 2(3): 143–153. doi: 10.1177/1756285609103324
PMCID:
PMC3002626
ArticlePDF–442K
11.
Glycogen storage disease type II: clinical overview
M Di Rocco, D Buzzi, M Tarò
Acta Myol. 2007 Jul; 26(1): 42–44.
PMCID:
PMC2949314
ArticlePDF–131K
12.
Therapeutic approaches in glycogen storage disease type II/pompe disease
Benedikt Schoser, Victoria Hill, Nina Raben
Neurotherapeutics. 2008 Oct; 5(4): 569–578. Published online 2008 Oct 1. doi: 10.1016/j.nurt.2008.08.009
PMCID:
PMC2761605
ArticlePDF–103K
13.
Enhanced Efficacy of an AAV Vector Encoding Chimeric, Highly-Secreted Acid α-glucosidase in Glycogen Storage Disease Type II
Baodong Sun, Haoyue Zhang, Daniel K. Benjamin, Jr., Talmage Brown, Andrew Bird, Sarah P. Young, Alison McVie-Wylie, Y-T Chen, Dwight D. Koeberl
Mol Ther. Author manuscript; available in PMC 2009 Jul 14.
Published in final edited form as: Mol Ther. 2006 Dec; 14(6): 822–830. Published online 2006 Sep 20. doi: 10.1016/j.ymthe.2006.08.001
PMCID:
PMC2709843
ArticlePDF–1.1M
14.
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
M M Hermans, E de Graaff, M A Kroos, H A Wisselaar, R Willemsen, B A Oostra, A J Reuser
Biochem J. 1993 Feb 1; 289(Pt 3): 687–693. doi: 10.1042/bj2890687
PMCID:
PMC1132230
SummaryPage BrowsePDF–1.9M
15.
Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II
Maryann L. Huie, Kwame Anyane-Yeboa, Edwin Guzman, Rochelle Hirschhorn
Am J Hum Genet. 2002 Apr; 70(4): 1054–1057. Published online 2002 Feb 19. doi: 10.1086/339691
PMCID:
PMC379102
ArticlePDF–73K
16.
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-α-glucosidase
A. Amalfitano, A. J. McVie-Wylie, H. Hu, T. L. Dawson, N. Raben, P. Plotz, Y. T. Chen
Proc Natl Acad Sci U S A. 1999 Aug 3; 96(16): 8861–8866. doi: 10.1073/pnas.96.16.8861
PMCID:
PMC17698
ArticlePDF–379K
17.
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox, Benedikt Schoser
Orphanet J Rare Dis. 2024; 19: 154. Published online 2024 Apr 11. doi: 10.1186/s13023-024-03156-3
PMCID:
PMC11008008
ArticlePDF–1.0M
18.
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Acta Myol. 2024; 43(1): 21–26. Published online 2024 Feb 21. doi: 10.36185/2532-1900-411
PMCID:
PMC10997040
ArticlePDF–392K
19.
Mitochondrial dysfunction is associated with hypertrophic cardiomyopathy in Pompe disease‐specific induced pluripotent stem cell‐derived cardiomyocytes
Wenjun Huang, Rui Zhou, Congshan Jiang, Jie Wang, Yafei Zhou, Xiaoyan Xu, Tao Wang, Anmao Li, Yanmin Zhang
Cell Prolif. 2024 Apr; 57(4): e13573. Published online 2023 Nov 2. doi: 10.1111/cpr.13573
PMCID:
PMC10984102
ArticlePDF–3.3M
20.
Using an In Vivo Mouse Model to Determine the Exclusion Criteria of Preexisting Anti-AAV9 Neutralizing Antibody Titer of Pompe Disease Patients in Clinical Trials
Hanqing Wang, Cengceng Zhang, Zheyue Dong, Xueyang Zhu, Xuchu Zheng, Ziyang Liu, Jianfang Zhou, Shuangqing Yu, Xiaobing Wu, Xiaoyan Dong
Viruses. 2024 Mar; 16(3): 400. Published online 2024 Mar 5. doi: 10.3390/v16030400
PMCID:
PMC10976115
ArticlePDF–1.4M

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