PMC Articles for MedGen (Select 148252) - PMC

Links from MedGen

Items: 1 to 20 of 225

<< First< Prev

Page of 12

Next >Last >>

Select item 104227261.

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 PubReader PDF–1.3M Cite

Select item 104038722.

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 PubReader PDF–1.4M Cite

Select item 102973643.

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 PubReader PDF–6.2M Cite

Select item 102810864.

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 PubReader PDF–880K Cite

Select item 102807485.

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 PubReader PDF–812K Cite

Select item 101216956.

Degeneration of muscle spindles in a murine model of Pompe disease

Bridgette Watkins, Jürgen Schultheiß, Andi Rafuna, Stefan Hintze, Peter Meinke, Benedikt Schoser, Stephan Kröger

Sci Rep. 2023; 13: 6555. Published online 2023 Apr 21. doi: 10.1038/s41598-023-33543-y

PMCID:: PMC10121695

Article PubReader PDF–4.9M Cite

Select item 100924947.

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 PubReader PDF–2.5M Cite

Select item 100848698.

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 PubReader PDF–689K Cite

Select item 100737259.

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 PubReader PDF–16M Cite

Select item 979100510.

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 PubReader PDF–537K Cite

Select item 972426511.

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 PubReader PDF–1.1M Cite

Select item 967790212.

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 PubReader PDF–1.7M Cite

Select item 961280113.

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 PubReader PDF–2.9M Cite

Select item 951148914.

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 PubReader PDF–2.1M Cite

Select item 931005315.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant

Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 25.

Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 106–116. Published online 2018 Aug 23. doi: 10.1016/j.ymgme.2018.08.009

PMCID:: PMC9310053

Article PubReader PDF–458K Cite

Select item 929290216.

Broad variation in phenotypes for common GAA genotypes in Pompe disease

Monica Y. Niño, Stijn L. M. in't Groen, Douglas O. S. de Faria, Marianne Hoogeveen‐Westerveld, Hannerieke J. M. P. van den Hout, Ans T. van der Ploeg, Atze J. Bergsma, W. W. M. Pim Pijnappel

Hum Mutat. 2021 Nov; 42(11): 1461–1472. Published online 2021 Sep 8. doi: 10.1002/humu.24272

PMCID:: PMC9292902

Article PubReader PDF–2.3M Cite

Select item 926660417.

Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study

Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza

Mol Genet Genomic Med. 2022 Jul; 10(7): e1957. Published online 2022 May 9. doi: 10.1002/mgg3.1957

PMCID:: PMC9266604

Article PubReader PDF–2.6M Cite

Select item 922285518.

Genome-Wide Association Studies Reveal Candidate Genes Related to Stem Diameter in Cucumber (Cucumis sativus L.)

Yingying Yang, Shaoyun Dong, Han Miao, Xiaoping Liu, Zhuonan Dai, Xiangsheng Li, Xingfang Gu, Shengping Zhang

Genes (Basel) 2022 Jun; 13(6): 1095. Published online 2022 Jun 19. doi: 10.3390/genes13061095

PMCID:: PMC9222855

Article PubReader PDF–4.9M Cite

Select item 914276619.

Efficacious Androgen Hormone Administration in Combination with Adeno-Associated Virus Vector-Mediated Gene Therapy in Female Mice with Pompe Disease

Sang-oh Han, Dorothy Gheorghiu, Alex Chang, Sweet Hope Mapatano, Songtao Li, Elizabeth Brooks, Dwight Koeberl

Hum Gene Ther. May 2022; 33(9-10): 479–491. Published online 2022 May 16. doi: 10.1089/hum.2021.218

PMCID:: PMC9142766

Article PubReader PDF–949K Cite

Select item 912514020.

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 PubReader PDF–609K Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 225

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity