pompe disease

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1
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara, Lukana;Wattanasirichaigoon, Duangrurdee;Tim-Aroon, Thipwimol;Rojnueangnit, Kitiwan;Noojaro...
2019 bmc medical genetics DOI: 10.1186/s12881-019-0... 231 views
2
Airway abnormalities in very early treated infantile-onset Pompe disease: A large-scale survey by flexible bronchoscopy.
Yang, Chia-Feng;Niu, Dau-Ming;Tai, Shyh-Kuan;Wang, Ting-Hao;Su, Hsiao-Ting;Huang, Ling-Yi;Soong, Wen...
2020 american journal of medical genetics part a DOI: 10.1002/ajmg.a.61481 267 views
3
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua, Jorge A;Guecaimburu Ehuletche, Maria Del Rosario;Perna, Abayuba;Dubrovsky, Alberto;Franc...
2020 orphanet journal of rare diseases DOI: 10.1186/s13023-019-1... 381 views
4
Glycogen storage in a zebrafish Pompe disease model is reduced by 3-BrPA treatment.
Bragato, Cinzia;Carra, Silvia;Blasevich, Flavia;Salerno, Franco;Brix, Alessia;Bassi, Andrea;Beltrame...
2020 biochimica et biophysica acta molecular basis of d... DOI: S0925-4439(20)30001-... 280 views
5
Comparisons of Infant and Adult Mice Reveal Age Effects for Liver Depot Gene Therapy in Pompe Disease.
Han, Sang-Oh;Li, Songtao;McCall, Angela;Arnson, Benjamin;Everitt, Jeffrey I;Zhang, Haoyue;Young, Sar...
2020 molecular therapy methods & clinical development DOI: 10.1016/j.omtm.2019.... 190 views
6
Effects of supplemental creatine and guanidinoacetic acid on spatial memory and the brain of weaned Yucatan miniature pigs.
Robinson, Jason L;McBreairty, Laura E;Ryan, Rebecca A;Randunu, Raniru;Walsh, Carolyn J;Martin, Gerar...
2020 PloS one DOI: 10.1371/journal.pone... 216 views
7
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan, Aleena A;Case, Laura E;Herbert, Mrudu;DeArmey, Stephanie;Jones, Harrison;Crisp, Kelly;Zimmerma...
2020 Genetics in medicine : official journal of the Ame... DOI: 10.1038/s41436-019-0... 248 views
8
The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population.
Canbay, Erhan;Vural, Melisa;Kalkan Uçar, Sema;Sezer, Ebru Demirel;Karasoy, Hatice;Yüceyar, Ayşe Nur;...
2020 journal of pediatric endocrinology & metabolism :... DOI: 10.1515/jpem-2019-03... 334 views
9
compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.
Jia, Xiaodong;Shao, Libin;Liu, Chengcheng;Chen, Tuanzhi;Peng, Ling;Cao, Yinguang;Zhang, Chuanchen;Ya...
2020 Aging DOI: 10.18632/aging.10287... 189 views
10
Novel Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
In 't Groen, Stijn L M;de Faria, Douglas O S;Iuliano, Alessandro;van den Hout, Johanna M P;Douben, H...
2020 molecular therapy methods & clinical development DOI: 10.1016/j.omtm.2019.... 222 views
11
The Respiratory Phenotype of Pompe Disease Mouse Models.
Fusco, Anna F;McCall, Angela L;Dhindsa, Justin S;Zheng, Lucy;Bailey, Aidan;Kahn, Amanda F;ElMallah,...
2020 International journal of molecular sciences DOI: E2256 236 views
12
a pilot study on using rapamycin-carrying synthetic vaccine particles (svp) in conjunction with enzyme replacement therapy to induce immune tolerance in pompe disease
;Han-Hyuk Lim;Haiqing Yi;Takashi K. Kishimoto;Fengqin Gao;Baodong Sun;Priya S. Kishnani
2017 advances in skin & wound care DOI: 10.1016/j.ymgmr.2017... 189 views
13
pompe disease clinical and laboratory diagnostic features
;N.O. Pichkur;N.V. Olkhovych;T.P. Ivanova;N.V. Samonenko
2017 scientific electronic archives DOI: 10.22141/2224-0551.1... 141 views
14
antisense oligonucleotide-mediated suppression of muscle glycogen synthase 1 synthesis as an approach for substrate reduction therapy of pompe disease
;Nicholas P Clayton;Carol A Nelson;Timothy Weeden;Kristin M Taylor;Rodney J Moreland;Ronald K Scheul...
2014 coordination chemistry reviews DOI: 10.1038/mtna.2014.57 190 views
15
from cryptic toward canonical pre-mrna splicing in pompe disease: a pipeline for the development of antisense oligonucleotides
;Atze J Bergsma;Stijn LM in ‘t Groen;Frans W Verheijen;Ans T van der Ploeg;WWM Pim Pijnappel
2016 coordination chemistry reviews DOI: 10.1038/mtna.2016.75 230 views

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acid alpha glucosidase gaa glycogen storage disease type ii lysosomal strorage disorder airway abnormalities flexible bronchoscopy next-generation sequencing latin america limb-girdle muscle weakness zebrafish glycogen 3-bromopyruvic acid (3-brpa) acid α-glucosidase adeno-associated virus vector glycogen storage disease infantile enzyme replacement therapy alglucosidase alfa high dose recombinant human gaa