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Items: 1 to 20 of 131

1.
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression
Alexandra Monceau, Rasya Gokul Nath, Xavier Suárez-Calvet, Olimpia Musumeci, Antonio Toscano, Biruta Kierdaszuk, Anna Kostera-Pruszczyk, Cristina Domínguez-González, Aurelio Hernández-Lain, Carmen Paradas, Eloy Rivas, George Papadimas, Constantinos Papadopoulos, Margarita Chrysanthou-Piterou, Eduard Gallardo, Montse Olivé, James Lilleker, Mark E Roberts, Domenica Marchese, Giulia Lunazzi, Holger Heyn, Esther Fernández-Simón, Elisa Villalobos, James Clark, Panos Katsikis, Catherine Collins, Priyanka Mehra, Zoe Laidler, Amy Vincent, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Nina Raben, Jordi Díaz-Manera
Brain. 2024 Dec; 147(12): 4213–4226. Published online 2024 Jul 24. doi: 10.1093/brain/awae249
PMCID:
PMC11629704
ArticlePDF–1.5M
2.
Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report
Moein Mir, Kianmehr Rouhani, Kiana Rouhani, Mohammadjavad Hassani, Mohammadrafi Damirchi, Sajjad Yazdansetad, Mehrdad Aghaei
J Med Case Rep. 2024; 18: 486. Published online 2024 Oct 8. doi: 10.1186/s13256-024-04837-0
PMCID:
PMC11459847
ArticlePDF–2.2M
3.
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model
Rebecca L. Koch, Bridget T. Kiely, Su Jin Choi, William R. Jeck, Leticia S. Flores, Vikrant Sood, Seema Alam, Gilda Porta, Katy LaVecchio, Claudia Soler-Alfonso, Priya S. Kishnani
JCI Insight. 2024 Jun 24; 9(12): e177722. Published online 2024 May 14. doi: 10.1172/jci.insight.177722
PMCID:
PMC11383185
ArticlePDF–2.6M
4.
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports
Qi Feng, Meng Qiao Zhang, Chun Xiao Ba, Ying Qian Zhang
Medicine (Baltimore) 2024 Aug 30; 103(35): e39534. Published online 2024 Aug 30. doi: 10.1097/MD.0000000000039534
PMCID:
PMC11365635
ArticlePDF–442K
5.
PRKAG2 syndrome, a rare hypertrophic cardiomyopathy: a Brazilian long-term follow-up with extracardiac disorders
Lenises de Paula van der Steld, Mario de Seixas Rocha, Ana Marice Teixeira Ladeia, Humberto Lago Livramento, Gervásio Batista Campos, Francisco Carlos da Costa Darrieux, Oscar Campuzano, Ramon Brugada
Einstein (Sao Paulo) 2024; 22: eAO0549. Published online 2024 Jul 10. doi: 10.31744/einstein_journal/2024AO0549
PMCID:
PMC11239200
ArticlePDF–1.1M
6.
Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease
Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De la Torre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz del Carmen Marquez‐Quiróz, Benjamín Torres‐Octavo, Rubicel Diaz‐Martinez
Mol Genet Genomic Med. 2024 Jul; 12(7): e2480. Published online 2024 Jul 3. doi: 10.1002/mgg3.2480
PMCID:
PMC11220502
ArticlePDF–1.0M
7.
Induced Pluripotent Stem Cells and CRISPR-Cas9 Innovations for Treating Alpha-1 Antitrypsin Deficiency and Glycogen Storage Diseases
Colin Walsh, Sha Jin
Cells. 2024 Jun; 13(12): 1052. Published online 2024 Jun 18. doi: 10.3390/cells13121052
PMCID:
PMC11201389
ArticlePDF–790K
8.
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
Orphanet J Rare Dis. 2024; 19: 155. Published online 2024 Apr 11. doi: 10.1186/s13023-024-03137-6
PMCID:
PMC11010294
ArticlePDF–1.3M
9.
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
10.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel
Jennifer L. Goldstein, Jennifer McGlaughon, Dona Kanavy, Shelly Goomber, Yinghong Pan, Brett Deml, Taraka Donti, Liz Kearns, Bryce A. Seifert, Miriam Schachter, Rachel G. Son, Courtney Thaxton, Rupa Udani, Deeksha Bali, Heather Baudet, Michele Caggana, Christina Hung, Lianna Kyriakopoulou, Lynne Rosenblum, Robert Steiner, Filippo Pinto e Vairo, Yang Wang, Michael Watson, Raquel Fernandez, Meredith Weaver, Lorne Clarke, Catherine Rehder
Mol Genet Metab. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Mol Genet Metab. 2023 Sep-Oct; 140(1-2): 107715. Published online 2023 Oct 26. doi: 10.1016/j.ymgme.2023.107715
PMCID:
PMC10872922
ArticlePDF–434K
11.
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Genes (Basel) 2023 Dec; 14(12): 2219. Published online 2023 Dec 15. doi: 10.3390/genes14122219
PMCID:
PMC10743078
ArticlePDF–1.1M
12.
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review
Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu
J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633
PMCID:
PMC10718061
ArticlePDF–613K
13.
A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T
Kentaro Ito, Go Tajima, Chikako Kamisato, Miyuki Tsumura, Mitsuhiro Iwamoto, Yukiko Sekiguchi, Yukinobu Numata, Kyoko Watanabe, Yoshiyuki Yabe, Satomi Kanki, Yusuke Fujieda, Koichi Goto, Yoshitaka Sogawa, Masataka Oitate, Hiroyuki Nagase, Shinnosuke Tsuji, Tomohiro Nishizawa, Masayo Kakuta, Takeshi Masuda, Yoshiyuki Onishi, Makoto Koizumi, Hidefumi Nakamura, Satoshi Okada, Masafumi Matsuo, Kiyosumi Takaishi
J Clin Invest. 2023 Dec 1; 133(23): e163464. Published online 2023 Dec 1. doi: 10.1172/JCI163464
PMCID:
PMC10688987
ArticlePDF–11M
14.
Phase I study of liver depot gene therapy in late-onset Pompe disease
Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
Mol Ther. 2023 Jul 5; 31(7): 1994–2004. Published online 2023 Feb 18. doi: 10.1016/j.ymthe.2023.02.014
PMCID:
PMC10362382
ArticlePDF–2.6M
15.
Dysregulation of Metabolism and Proteostasis in Skeletal Muscle of a Presymptomatic Pompe Mouse Model
Marlena Rohm, Leon Volke, Lara Schlaffke, Robert Rehmann, Nicolina Südkamp, Andreas Roos, Anne Schänzer, Andreas Hentschel, Matthias Vorgerd
Cells. 2023 Jun; 12(12): 1602. Published online 2023 Jun 11. doi: 10.3390/cells12121602
PMCID:
PMC10297364
ArticlePDF–6.2M
16.
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests
Stephanie J. Valberg, Marisa L. Henry, Keely L. Herrick, Deborah Velez‐Irizarry, Carrie J. Finno, Jessica L. Petersen
Equine Vet J. 2023 Mar; 55(2): 230–238. Published online 2022 Apr 1. doi: 10.1111/evj.13574
PMCID:
PMC10084132
ArticlePDF–472K
17.
Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders
Jordi Duran
Cells. 2023 Mar; 12(5): 722. Published online 2023 Feb 24. doi: 10.3390/cells12050722
PMCID:
PMC10000527
ArticlePDF–2.5M
18.
Parenteral Exposure of Mice to Ricin Toxin Induces Fatal Hypoglycemia by Cytokine-Mediated Suppression of Hepatic Glucose-6-Phosphatase Expression
Seth H. Pincus, Alexi Kyro, Grace A. Maresh, Tami Peters, Jacob Kempa, Tamera K. Marcotte, Zhanguo Gao, Jianping Ye, Valérie Copié, Kejing Song
Toxins (Basel) 2022 Dec; 14(12): 820. Published online 2022 Nov 23. doi: 10.3390/toxins14120820
PMCID:
PMC9786807
ArticlePDF–6.2M
19.
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
Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang
Sci Rep. 2022; 12: 21576. Published online 2022 Dec 14. doi: 10.1038/s41598-022-25914-8
PMCID:
PMC9751086
ArticlePDF–3.9M
20.
Survey on the management of Pompe disease in routine clinical practice in Spain
Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera
Orphanet J Rare Dis. 2022; 17: 426. Published online 2022 Dec 5. doi: 10.1186/s13023-022-02574-5
PMCID:
PMC9724265
ArticlePDF–1.1M

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