PMC Articles for MedGen (Select 82895) - PMC

Asmaa Mamoune, Michel Bahuau, Yamina Hamel, Valérie Serre, Michele Pelosi, Florence Habarou, Marie-Ange Nguyen Morel, Bertrand Boisson, Sabrina Vergnaud, Mai Thao Viou, Luc Nonnenmacher, Monique Piraud, Patrick Nusbaum, Joseph Vamecq, Norma Romero, Chris Ottolenghi, Jean-Laurent Casanova, Pascale de Lonlay

PLoS Genet. 2014 Nov; 10(11): e1004711. Published online 2014 Nov 13. doi: 10.1371/journal.pgen.1004711

PMCID:: PMC4230727

Article PDF–705K

Select item 88951044.

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

Lucia Santoro, Dorina Pjetraj, Virtut Velmishi, Carmen Campana, Carlo Catassi, Carlo Dionisi-Vici, Arianna Maiorana

Ital J Pediatr. 2022; 48: 39. Published online 2022 Mar 4. doi: 10.1186/s13052-022-01228-3

PMCID:: PMC8895104

Article PDF–899K

Select item 109761155.

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 107430786.

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 107180617.

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 106889878.

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 102973649.

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

Article PDF–6.2M

Select item 1008413210.

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

Article PDF–472K

Select item 1000052711.

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

Article PDF–2.5M

Select item 978680712.

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

Article PDF–6.2M

Select item 972426513.

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

Article PDF–1.1M

Select item 971840214.

Polygenic risk scores for cardiovascular diseases and type 2 diabetes

Chi Kuen Wong, Enes Makalic, Gillian S. Dite, Lawrence Whiting, Nicholas M. Murphy, John L. Hopper, Richard Allman

PLoS One. 2022; 17(12): e0278764. Published online 2022 Dec 2. doi: 10.1371/journal.pone.0278764

PMCID:: PMC9718402

Article PDF–675K

Select item 969253115.

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

María del Carmen Ortuño-Costela, Victoria Cerrada, Ana Moreno-Izquierdo, Inés García-Consuegra, Camille Laberthonnière, Mégane Delourme, Rafael Garesse, Joaquín Arenas, Carla Fuster García, Gema García García, José María Millán, Frédérique Magdinier, María Esther Gallardo

Int J Mol Sci. 2022 Nov; 23(22): 13964. Published online 2022 Nov 12. doi: 10.3390/ijms232213964

PMCID:: PMC9692531

Article PDF–5.9M

Select item 967790216.

Infantile Pompe disease with intrauterine onset: a case report and literature review

Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang

Ital J Pediatr. 2022; 48: 187. Published online 2022 Nov 21. doi: 10.1186/s13052-022-01379-3

PMCID:: PMC9677902

Article PDF–1.7M

Select item 960168717.

Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)

Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín

Genes (Basel) 2022 Oct; 13(10): 1835. Published online 2022 Oct 11. doi: 10.3390/genes13101835

PMCID:: PMC9601687

Article PDF–1.6M

Select item 912514018.

Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey

S. Kilavuz, D. Kor, F.D. Bulut, M. Serbes, D. Karagoz, D.U. Altıntas, A. Bisgin, G. Seydaoğlu, H.N.O. Mungan

Arch Pediatr. 2022 Aug; 29(6): 415–423. Published online 2022 May 23. doi: 10.1016/j.arcped.2022.05.003

PMCID:: PMC9125140

Article PDF–609K

Select item 910011719.

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín

Int J Mol Sci. 2022 May; 23(9): 4650. Published online 2022 Apr 22. doi: 10.3390/ijms23094650

PMCID:: PMC9100117

Article PDF–814K

Select item 907535120.

Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies

Quan M. Bui, Kimberly N. Hong, Megan Kraushaar, Gary S. Ma, Michela Brambatti, Andrew M. Kahn, Carol Elias Battiha, Kylie Boynton, Garrett Storm, Luisa Mestroni, Matthew R. G. Taylor, Anthony N. DeMaria, Eric A. Adler

J Am Heart Assoc. 2021 Dec 7; 10(23): e022544. Published online 2021 Nov 30. doi: 10.1161/JAHA.121.022544

PMCID:: PMC9075351

Article PDF–830K

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