Results 131 to 140 of about 22,388 (216)

Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease. [PDF]

Dis Model Mech
Harb JF, Kan SH, Christensen CL, Rha AK, Andrade-Heckman P, Kliman A, Padilla A, Holbrook C, Huang JY, Koeberl DD, Wang RY.   +10 more
europepmc   +1 more source

Mapping lung function in late-onset Pompe disease using label-free functional MRI. [PDF]

iScience
Tan L, Wagner AL, Heiss R, Bayerl N, Zschüntzsch J, Regensburger AP, Alves F, Türk M, Schmidt S, Grimm R, Vorgerd M, Schlaffke L, Vogt-Wolz H, Claßen M, Stoecklein B, Buehler A, Woelfle J, Uder M, Hahn A, Mensch A, Winterholler M, Trollmann R, Raming R, Knieling F.   +23 more
europepmc   +1 more source

Pompe disease [PDF]

, 2019
openaire   +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

Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla ¹³C NMR spectroscopy. [PDF]

J Neurol Neurosurg Psychiatry
Beha GH, Stemmerik MG, Boer VO, van der Ploeg AT, van der Beek NA, Andersen H, Marsman A, Jacobsen LN, Theunissen MTM, Petersen ET, Vissing J.   +10 more
europepmc   +1 more source

Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease. [PDF]

Orphanet J Rare Dis
Huang W, Wang J, Zhou Y, Xiao H, Jiang K, Cui J, Zhang Y, Zhou R.   +7 more
europepmc   +1 more source

Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review. [PDF]

Front Allergy
Zhou J, Wang Q, Zhang H, Wang Y, Wang Z, Yang F, Yang S.   +6 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

Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life. [PDF]

J Patient Exp
Gallarda BW, Leslie RA, Oyedepo F, Almeida C, Ampeh K, Gonzalez G, Schoser B.   +6 more
europepmc   +1 more source

Pompe Disease: A Case Presentation

Journal of Neuromuscular Diseases, 2015
A, Hancu, N, Butoianu, R, Rosioru
openaire   +3 more sources