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Select item 104038721.

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 93100532.

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 PDF–458K

Select item 92929023.

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 PDF–2.3M

Select item 92666044.

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 PDF–2.6M

Select item 89055845.

To detect potential pathways and target genes in infantile Pompe patients using computational analysis

Aynur Karadağ Gürel, Selçuk Gürel

Bioimpacts. 2022; 12(2): 89–105. Published online 2022 Jan 22. doi: 10.34172/bi.2022.23467

PMCID:: PMC8905584

Article PDF–6.3M

Select item 81913026.

Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase

Nithya Selvan, Nickita Mehta, Suresh Venkateswaran, Nastry Brignol, Matthew Graziano, M. Osman Sheikh, Yuliya McAnany, Finn Hung, Matthew Madrid, Renee Krampetz, Nicholas Siano, Anuj Mehta, Jon Brudvig, Russell Gotschall, Jill M. Weimer, Hung V. Do

J Biol Chem. 2021 Jan-Jun; 296: 100769. Published online 2021 May 8. doi: 10.1016/j.jbc.2021.100769

PMCID:: PMC8191302

Article PDF–3.0M

Select item 77610017.

The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo

Allen K. Murray

Biomolecules. 2020 Dec; 10(12): 1613. Published online 2020 Nov 29. doi: 10.3390/biom10121613

PMCID:: PMC7761001

Article PDF–4.9M

Select item 73292708.

Gene-specific features enhance interpretation of mutational impact on acid alpha-glucosidase enzyme activity

Aashish N. Adhikari

Hum Mutat. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Hum Mutat. 2019 Sep; 40(9): 1507–1518. Published online 2019 Aug 7. doi: 10.1002/humu.23846

PMCID:: PMC7329270

Article PDF–2.0M

Select item 70931959.

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease

Xiaodong Jia, Libin Shao, Chengcheng Liu, Tuanzhi Chen, Ling Peng, Yinguang Cao, Chuanchen Zhang, Xiafeng Yang, Guifeng Zhang, Jianlu Gao, Guangyi Fan, Mingliang Gu, Hongli Du, Zhangyong Xia

Aging (Albany NY) 2020 Mar 15; 12(5): 4268–4282. Published online 2020 Mar 3. doi: 10.18632/aging.102879

PMCID:: PMC7093195

Article PDF–1.3M

Select item 673766510.

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti

BMC Med Genet. 2019; 20: 156. Published online 2019 Sep 11. doi: 10.1186/s12881-019-0878-8

PMCID:: PMC6737665

Article PDF–1.1M

Select item 627386811.

High-Resolution α-Glucosidase Inhibition Profiling Combined with HPLC-HRMS-SPE-NMR for Identification of Antidiabetic Compounds in Eremanthus crotonoides (Asteraceae)

Eder Lana e Silva, Jonathas Felipe Revoredo Lobo, Joachim Møllesøe Vinther, Ricardo Moreira Borges, Dan Staerk

Molecules. 2016 Jun; 21(6): 782. Published online 2016 Jun 16. doi: 10.3390/molecules21060782

PMCID:: PMC6273868

Article PDF–1.3M

Select item 581278112.

Lipidic Nanoparticles Comprising of Phosphatidylinositol Mitigate Immunogenicity and Improve Efficacy of Recombinant Human Acid Alpha-Glucosidase in a Murine Model of Pompe Disease

Jennifer L. Schneider, Robert K. Dingman, Sathy V. Balu-Iyer

J Pharm Sci. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: J Pharm Sci. 2018 Mar; 107(3): 831–837. Published online 2017 Nov 2. doi: 10.1016/j.xphs.2017.10.038

PMCID:: PMC5812781

Article PDF–470K

Select item 576060813.

Pompe disease in Austria: clinical, genetic and epidemiological aspects

W. N. Löscher, M. Huemer, T. M. Stulnig, P. Simschitz, S. Iglseder, C. Eggers, H. Moser, D. Möslinger, M. Freilinger, F. Lagler, S. Grinzinger, M. Reichhardt, R. E. Bittner, W. M. Schmidt, U. Lex, M. Brunner-Krainz, S. Quasthoff, J. V. Wanschitz

J Neurol. 2018; 265(1): 159–164. Published online 2017 Nov 27. doi: 10.1007/s00415-017-8686-6

PMCID:: PMC5760608

Article PDF–625K

Select item 441172014.

Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

Xiao Liu, Zhaoxia Wang, Weina Jin, He Lv, Wei Zhang, Chengli Que, Yu Huang, Yun Yuan

BMC Med Genet. 2014; 15: 141. Published online 2014 Dec 20. doi: 10.1186/s12881-014-0141-2

PMCID:: PMC4411720

Article PDF–1.9M

Select item 413523315.

Pompe disease: from pathophysiology to therapy and back again

Jeong-A Lim, Lishu Li, Nina Raben

Front Aging Neurosci. 2014; 6: 177. Prepublished online 2014 Jul 3. Published online 2014 Jul 23. doi: 10.3389/fnagi.2014.00177

PMCID:: PMC4135233

Article PDF–1.3M

Select item 390295016.

Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents

Andrea Dardis, Irene Zanin, Stefania Zampieri, Cristiana Stuani, Annalisa Pianta, Milena Romanello, Francisco E. Baralle, Bruno Bembi, Emanuele Buratti

Nucleic Acids Res. 2014 Jan; 42(2): 1291–1302. Published online 2013 Oct 21. doi: 10.1093/nar/gkt987

PMCID:: PMC3902950

Article PDF–3.9M

Select item 386689917.

A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease

CARMEN ESMER, ROSARIO BECERRA-BECERRA, CLAUDIA PEÑA-ZEPEDA, ANTONIO BRAVO-ORO

Acta Myol. 2013 Oct; 32(2): 95–99.

PMCID:: PMC3866899

Article PDF–317K

Select item 385182518.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini, Giuseppe Di Iorio

Orphanet J Rare Dis. 2013; 8: 159. Published online 2013 Oct 10. doi: 10.1186/1750-1172-8-159