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Select item 101351781.

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

Abstract Article PDF–1.8M

Select item 89775162.

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

Abstract Article PDF–2.1M

Select item 89647153.

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

Abstract Article PDF–2.5M

Select item 73892884.

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

Abstract Article PDF–2.0M

Select item 67046335.

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

Abstract Article PDF–610K

Select item 41002556.

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

Abstract Article PDF–1.1M

Select item 35276637.

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

Abstract Article

Select item 34385018.

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

Abstract Article PDF–983K

Select item 30603149.

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

Abstract Article PDF–571K

Select item 300262610.

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

Abstract Article PDF–442K

Select item 294931411.

Glycogen storage disease type II: clinical overview

M Di Rocco, D Buzzi, M Tarò

Acta Myol. 2007 Jul; 26(1): 42–44.

PMCID:: PMC2949314

Abstract Article PDF–131K

Select item 276160512.

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

Abstract Article PDF–103K

Select item 270984313.

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

Abstract Article PDF–1.1M

Select item 113223014.

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

Summary Page Browse PDF–1.9M

Select item 37910215.

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

Abstract Article PDF–73K

Select item 1769816.

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

Abstract Article PDF–379K

Select item 1108733017.

Mast cells in human choroid and their role in age-related macular degeneration (AMD)

Domenico Ribatti, Rosanna Dammacco

Clin Exp Med. 2024; 24(1): 98. Published online 2024 May 10. doi: 10.1007/s10238-024-01361-9

PMCID:: PMC11087330

Abstract Article PDF–415K

Select item 1107732918.

Psychophysical, electrofunctional, and morphological evaluation in naïve neovascular AMD patients treated with intravitreal anti‐VEGF

Marcella Nebbioso, Federica Franzone, Alberto Milanese, Marco Artico, Samanta Taurone, Maurizio La Cava, Maria Luisa Livani, Vincenza Bonfiglio, Annarita Vestri

Aging Med (Milton) 2024 Apr; 7(2): 189–201. Published online 2024 Apr 9. doi: 10.1002/agm2.12296

PMCID:: PMC11077329

Abstract Article PDF–5.3M

Select item 1107662919.

Baseline characteristics of eyes with early residual fluid post loading phase of aflibercept therapy in neovascular AMD: PRECISE study report 3

Shruti Chandra, Sarega Gurudas, Ian Pearce, Martin Mckibbin, Ajay Kotagiri, Geeta Menon, Benjamin J. L. Burton, James Talks, Anna Grabowska, Faruque Ghanchi, Richard Gale, Andrea Giani, Victor Chong, Ching Ning Taffeta Chen, Luke Nicholson, Sridevi Thottarath, Swati Chandak, Sobha Sivaprasad

Eye (Lond) 2024 May; 38(7): 1301–1307. Published online 2023 Dec 15. doi: 10.1038/s41433-023-02886-1