PMC Articles for MedGen (Select 148252) - PMC

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 106889874.

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 106495495.

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 105437356.

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 105269327.

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 104227268.

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

Select item 104038729.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6

PMCID:: PMC10403872

Article PDF–1.4M

Select item 1029736410.

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 1028108611.

Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene

Chloe Christensen, Perla Heckman, Allisandra Rha, Shih-Hsin Kan, Jerry Harb, Raymond Wang

Stem Cell Res. Author manuscript; available in PMC 2023 Jun 20.

Published in final edited form as: Stem Cell Res. 2023 Jun; 69: 103117. Published online 2023 May 6. doi: 10.1016/j.scr.2023.103117

PMCID:: PMC10281086

Article PDF–880K

Select item 1028074812.

Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos

Luz M. Sánchez-Sánchez, Valentina Martínez-Montoya, Roberto Sandoval-Pacheco, Benjamín Torres-Octavo, Diana M. Anaya-Castro, Ofelia Padilla-de la Torre, Carmen A. Arellano-Valdez, Carmen A. Ávila-Rejón, Pedro A. Aguilar-Juárez, Martín Espino-Pluma, Antonio González-Santillanes Cruz, Ekaterina Kazakova, Rosa I. Martinez-Segovia, Dorian Olmos-Morfin, Pablo F. Radillo-Díaz, Ishar Solís-Sánchez, Mónica Vázquez Del Mercado-Espinosa, Camilo E. Villarroel-Cortés, Jesús S. Velarde-Félix

Rev Neurol. 2022; 75(5): 103–108. Spanish. Published online 2022 Sep 1. doi: 10.33588/rn.7505.2022227

PMCID:: PMC10280748

Article PDF–812K

Select item 1009249413.

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism

Rodrigo Canibano‐Fraile, Laurike Harlaar, Carlos A. dos Santos, Marianne Hoogeveen‐Westerveld, Jeroen A. A. Demmers, Tim Snijders, Philip Lijnzaad, Robert M. Verdijk, Nadine A. M. E. van der Beek, Pieter A. van Doorn, Ans T. van der Ploeg, Esther Brusse, W. W. M. Pim Pijnappel, Gerben J. Schaaf

J Inherit Metab Dis. 2023 Jan; 46(1): 101–115. Published online 2022 Oct 17. doi: 10.1002/jimd.12560

PMCID:: PMC10092494

Article PDF–2.5M

Select item 1008486914.

What’s new and what’s next for gene therapy in Pompe disease?

Angela L. Roger, Ronit Sethi, Meredith L. Huston, Evelyn Scarrow, Joy Bao-Dai, Elias Lai, Debolina D. Biswas, Léa El Haddad, Laura M. Strickland, Priya S. Kishnani, Mai K. ElMallah

Expert Opin Biol Ther. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Expert Opin Biol Ther. 2022 Sep; 22(9): 1117–1135. Published online 2022 Apr 27. doi: 10.1080/14712598.2022.2067476

PMCID:: PMC10084869

Article PDF–689K

Select item 1007372515.

Immune transgene-dependent myocarditis in macaques after systemic administration of adeno-associated virus expressing human acid alpha-glucosidase

Juliette Hordeaux, Ali Ramezani, Steve Tuske, Nickita Mehta, Chunjuan Song, Anna Lynch, Katherine Lupino, Jessica A. Chichester, Elizabeth L. Buza, Cecilia Dyer, Hongwei Yu, Peter Bell, Jill M. Weimer, Hung Do, James M. Wilson

Front Immunol. 2023; 14: 1094279. Published online 2023 Mar 22. doi: 10.3389/fimmu.2023.1094279

PMCID:: PMC10073725

Article PDF–16M

Select item 979100516.

Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases

Man Jin Kim, Soo Yeon Kim, Jin Sook Lee, Sanggoo Kang, Lae-Jeong Park, Wooyong Choi, Ju Yeol Jung, Taehyung Kim, Sung Sup Park, Jung Min Ko, Moon-Woo Seong, Jong Hee Chae

Ann Lab Med. 2023 May 1; 43(3): 280–289. Published online 2022 Dec 22. doi: 10.3343/alm.2023.43.3.280

PMCID:: PMC9791005

Article PDF–537K

Select item 972426517.

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 967790218.

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 961280119.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

Silvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, Charlotte R Marchioni, Jennifer P Y Lee, Brandon H Smith, Saija Ahonen, Jun Wu, Erin E Chown, Peixiang Wang, Sara Petković, Xiaochu Zhao, Laura F DiGiovanni, Ami M Perri, Lori Israelian, Tamar R Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A Minassian

Brain. 2022 Jul; 145(7): 2361–2377. Published online 2022 Jan 27. doi: 10.1093/brain/awac017

PMCID:: PMC9612801

Article PDF–2.9M

Select item 951148920.

串联质谱法筛查新生儿溶酶体贮积症酶活性切值的建立

Gaijie LI, Liping TIAN, Yuanfang GUO, Yulin LI, Meng SUN, Hui ZOU

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun; 51(3): 321–325. Chinese. doi: 10.3724/zdxbyxb-2022-0095

PMCID:: PMC9511489

Article PDF–2.1M

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