Results 81 to 90 of about 5,969 (170)

Headache: A Presentation of Pompe Disease; A Case Report

Caspian Journal of Neurological Sciences, 2017
Pompe disease, also termed glycogen storage disease type II or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (GAA), the glycogen degrading lysosomal enzyme.
Fariborz Rezaeitalab, Reza Boostani, Ali Ghabeli-Juibary, Sara Mali   +3 more
doaj  

A roadmap for a patient-centred approach to Pompe disease management. [PDF]

J Neurol
Schoser B, Domínguez-González C, Laforet P, Hahn A, Gissen P, Kostera-Pruszczyk A, Thalmeier A, Vissing J.   +7 more
europepmc   +1 more source

Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions. [PDF]

Front Neurol
Li G.
europepmc   +1 more source

Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI. [PDF]

Transl Res
Zeng Q, Li Y, Timm D, Johnson T, Mehta N, Martin L, Fox B, van Zijl PCM, Walter GA, Rosenberg JT, Kooi CWV, Corti M, Gentry MS, Sun RC, Byrne BJ, Yadav NN.   +15 more
europepmc   +1 more source

Identification of miRNAs Associated with Infantile-Onset Pompe Disease. [PDF]

Mol Syndromol
Bayrak H, Tosun F.
europepmc   +1 more source

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants. [PDF]

Front Mol Biosci
Pushkov A, Chudakova D, Zhanin I, Nikitin S, Basargina E, Kuzenkova L, Andreeva D, Vasil'eva M, Vasichkin S, Gabitova A, Gaisina E, Saifullina E, Gamzatova A, Gilvanova O, Dudin V, Ergina O, Kurbatov S, Noskova E, Osipova E, Tihonova O, Fedotova E, Nuzhny E, Chernikova V, Yamshchikova A, Kyzina L, Irinina N, Rohlenko O, Kutkova Y, Popkova N, Ahunova A, Alexeeva A, Mazanova N, Sdvigova N, Gandaeva L, Zharova O, Podkletnova T, Sukhozhenko A, Rusakova A, Demianov D, Pakhomov A, Fisenko A, Savostyanov K.   +41 more
europepmc   +1 more source

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. [PDF]

Ther Adv Rare Dis
Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G.   +16 more
europepmc   +1 more source

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report. [PDF]

Reports (MDPI)
Gragnaniello V, Pozza A, Cazzorla C, Gueraldi D, Di Salvo G, Burlina AB.   +5 more
europepmc   +1 more source

Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis. [PDF]

Orphanet J Rare Dis
Liu X, Li X, Yao X, Zhu G, Guo X, He W, Hu L, Yang G.   +7 more
europepmc   +1 more source

Pompe disease [PDF]

, 2019
openaire   +1 more source