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Select item 89775161.

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

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Select item 89647152.

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

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Select item 73892883.

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

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Select item 67046334.

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

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Select item 41002555.

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

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Select item 35276636.

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

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Select item 34385017.

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

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Select item 30603148.

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

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Select item 30026269.

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

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Select item 294931410.

Glycogen storage disease type II: clinical overview

M Di Rocco, D Buzzi, M Tarò

Acta Myol. 2007 Jul; 26(1): 42–44.

PMCID:: PMC2949314

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Select item 276160511.

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

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Select item 270984312.

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

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Select item 113223013.

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

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Select item 37910214.

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

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Select item 1769815.

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

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Select item 1021999116.

Associations with baseline visual acuity in 12,414 eyes starting treatment for neovascular AMD

S. D. Relton, G. C. Chi, A. J. Lotery, R. M. West, Real world AMD treatment outcomes EMR User Group, M. McKibbin

Eye (Lond) 2023 Jun; 37(8): 1652–1658. Published online 2022 Aug 26. doi: 10.1038/s41433-022-02208-x

PMCID:: PMC10219991

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Select item 1016936317.

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

Imke A. M. Ditters, Nadine A. M. E. van der Beek, Esther Brusse, Ans T. van der Ploeg, Johanna M. P. van den Hout, Hidde H. Huidekoper

Orphanet J Rare Dis. 2023; 18: 108. Published online 2023 May 8. doi: 10.1186/s13023-023-02715-4

PMCID:: PMC10169363

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Select item 1016065918.

An artificial intelligence-based approach for identifying rare disease patients using retrospective electronic health records applied for Pompe disease

Simon Lin, Jama Nateqi, Rafael Weingartner-Ortner, Stefanie Gruarin, Hannes Marling, Vinzenz Pilgram, Florian B. Lagler, Elmar Aigner, Alistair G. Martin

Front Neurol. 2023; 14: 1108222. Published online 2023 Apr 21. doi: 10.3389/fneur.2023.1108222

PMCID:: PMC10160659

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Select item 1013784619.

Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic

Agata Fiumara, Giuseppina Lanzafame, Annamaria Sapuppo, Alessia Arena, Lara Cirnigliaro, Rita Barone

Healthcare (Basel) 2023 Apr; 11(8): 1176. Published online 2023 Apr 19. doi: 10.3390/healthcare11081176

PMCID:: PMC10137846

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Select item 1013731020.

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease

Hacer Ilbilge Ertoy Karagol, Asli Inci, Sinem Polat Terece, Ayse Kilic, Fevzi Demir, Dilek Yapar, Gizem Koken, Ilyas Okur, Fatih Suheyl Ezgu, Leyla Tumer, Arzu Bakirtas

Int Arch Allergy Immunol. 2023 Apr; 184(4): 370–375. Published online 2023 Jan 9. doi: 10.1159/000528343