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Select item 109970401.

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

Article PDF–392K

Select item 109761152.

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

Article PDF–1.4M

Select item 109461413.

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh

BMC Pediatr. 2024; 24: 194. Published online 2024 Mar 18. doi: 10.1186/s12887-024-04690-6

PMCID:: PMC10946141

Article PDF–1.1M

Select item 108779554.

Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy

Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K. Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch

Mol Metab. 2024 Mar; 81: 101899. Published online 2024 Feb 10. doi: 10.1016/j.molmet.2024.101899

PMCID:: PMC10877955

Article PDF–6.4M

Select item 108210705.

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease

Janis Stavusis, Ieva Micule, Ieva Grinfelde, Anna Zdanovica, Janis Pudulis, Sandra Valeina, Svetlana Sepetiene, Baiba Lace, Inna Inashkina

Medicina (Kaunas) 2024 Jan; 60(1): 99. Published online 2024 Jan 5. doi: 10.3390/medicina60010099

PMCID:: PMC10821070

Article PDF–699K

Select item 107867026.

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III

Antoine Gardin, Jérémy Rouillon, Valle Montalvo-Romeral, Lucille Rossiaud, Patrice Vidal, Romain Launay, Mallaury Vie, Youssef Krimi Benchekroun, Jérémie Cosette, Bérangère Bertin, Tiziana La Bella, Guillaume Dubreuil, Justine Nozi, Louisa Jauze, Romain Fragnoud, Nathalie Daniele, Laetitia Van Wittenberghe, Jérémy Esque, Isabelle André, Xavier Nissan, Lucile Hoch, Giuseppe Ronzitti

J Clin Invest. 2024 Jan 16; 134(2): e172018. Published online 2024 Jan 16. doi: 10.1172/JCI172018

PMCID:: PMC10786702

Article PDF–2.9M

Select item 107855027.

Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report

Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian

J Med Case Rep. 2024; 18: 14. Published online 2024 Jan 12. doi: 10.1186/s13256-023-04295-0

PMCID:: PMC10785502

Article PDF–764K

Select item 107738898.

A novel PHKA2 variant in a Chinese boy with glycogen storage diseases type IXa

Hongdan Zhu, Tao Zhang, Hua Yuan, Yan Chen, Jinlong Ding, Haigang Ding, Xiaoliang Shi, Dalei Gu, Yingying Ma

Front Endocrinol (Lausanne) 2023; 14: 1332450. Published online 2023 Dec 20. doi: 10.3389/fendo.2023.1332450

PMCID:: PMC10773889

Article PDF–2.3M

Select item 107430789.

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

Article PDF–1.1M

Select item 1071806110.

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

Article PDF–613K

Select item 1071600611.

Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib

K.A. Krishnamurthy, M.G.S. Rutten, J.A. Hoogerland, T.H. van Dijk, T. Bos, M. Koehorst, M.P. de Vries, N.J. Kloosterhuis, H. Havinga, B.V. Schomakers, M. van Weeghel, J.C. Wolters, B.M. Bakker, M.H. Oosterveer

Mol Metab. 2024 Jan; 79: 101838. Published online 2023 Nov 22. doi: 10.1016/j.molmet.2023.101838

PMCID:: PMC10716006

Article PDF–929K

Select item 1068898712.

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

Article PDF–11M

Select item 1068888813.

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan

Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan

PLoS One. 2023; 18(11): e0288965. Published online 2023 Nov 30. doi: 10.1371/journal.pone.0288965

PMCID:: PMC10688888

Article PDF–2.0M

Select item 1064954914.

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion

Daniela Marotto, Marta Moschetti, Alessia Lo Curto, Anna M. Spezzigu, Miriam Giacomarra, Emanuela M. Marsana, Carmela Zizzo, Giovanni Duro, Paolo Colomba

Int J Mol Sci. 2023 Nov; 24(21): 15924. Published online 2023 Nov 3. doi: 10.3390/ijms242115924

PMCID:: PMC10649549

Article PDF–609K

Select item 1054373515.

AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice

Naresh K. Meena, Davide Randazzo, Nina Raben, Rosa Puertollano

JCI Insight. 2023 Aug 22; 8(16): e170199. Published online 2023 Aug 22. doi: 10.1172/jci.insight.170199

PMCID:: PMC10543735

Article PDF–7.3M

Select item 1052693216.

A Comprehensive Update on Late-Onset Pompe Disease

Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto

Biomolecules. 2023 Sep; 13(9): 1279. Published online 2023 Aug 22. doi: 10.3390/biom13091279

PMCID:: PMC10526932

Article PDF–848K

Select item 1049607017.

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease

Yongxiang Wang, Ming Bai, Piyi Zhang, Yu Peng, Zixian Chen, Zhiyu He, Jin Xu, Youqi Zhu, Dongdong Yan, Runqing Wang, Zheng Zhang

Mol Genet Genomic Med. 2023 Sep; 11(9): e2216. Published online 2023 Jun 8. doi: 10.1002/mgg3.2216

PMCID:: PMC10496070

Article PDF–9.6M

Select item 1048806418.

Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement

Anna Burban, Szymon Pucyło, Aleksandra Sikora, Grzegorz Opolski, Marcin Grabowski, Agnieszka Kołodzińska

Int J Mol Sci. 2023 Sep; 24(17): 13239. Published online 2023 Aug 26. doi: 10.3390/ijms241713239

PMCID:: PMC10488064

Article PDF–457K

Select item 1045482319.

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature

Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef, Liat Yaniv

Genes (Basel) 2023 Aug; 14(8): 1539. Published online 2023 Jul 27. doi: 10.3390/genes14081539

PMCID:: PMC10454823

Article PDF–3.0M

Select item 1042272620.

Clinical manifestations and MRI features of Danon disease: a case series

Yang Zhang, Ren Zhao, Yushan Yuan, Yongqiang Yu, Bin Liu, Xiaohu Li

BMC Cardiovasc Disord. 2023; 23: 397. Published online 2023 Aug 11. doi: 10.1186/s12872-023-03356-y

PMCID:: PMC10422726

Article PDF–1.3M

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