Results 91 to 100 of about 6,173 (169)

Multidimensional assessment of diaphragmatic dysfunction in late-onset Pompe disease: a prospective cohort study. [PDF]

Orphanet J Rare Dis
Hernández-Voth A, Sayas-Catalán J, Corral-Blanco M, Jiménez-Gómez M, Carvajal-Cuesta G, Domínguez-González C, Bermejo-Guerrero L, Martín-Jiménez P, Villena-Garrido V.   +8 more
europepmc   +1 more source

Pompe disease [PDF]

, 2019
openaire   +1 more source

Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches. [PDF]

Int J Mol Sci
Sharshakova A, Fattakhova A, Solovyeva V, Sufianov A, Sufianova G, Kutovoi G, Rizvanov A.   +6 more
europepmc   +1 more source

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

Dietary and body composition profiles in Chinese pediatric late-onset Pompe disease: implications for nutritional management. [PDF]

Front Med (Lausanne)
Liu X, Zhang Y, Guo X, Hu L, Hu P, Zhu G, Yao X, Li J, Yang G.   +8 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

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

Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study. [PDF]

Clinicoecon Outcomes Res
Youngkong S, Thavorncharoensap M, Chaikledkaew U, Luangsinsiri C, Tim-Aroon T, Kuptanon C, Sathienkijkanchai A, Rojnueangnit K, Wichajarn K, Boonyawat B, Suphapeetiporn K, Wattanasirichaigoon D.   +11 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

Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease. [PDF]

J Neuroeng Rehabil
Claramunt-Molet M, Pegueroles J, Pi-Cervera A, Rico M, Idelsohn-Zielonka S, Domínguez-González C, Corti M, Antón V, Salabarria SM, Wong K, James MK, Byrne BJ, Díaz-Manera J.   +12 more
europepmc   +1 more source