Results 121 to 130 of about 8,804 (200)

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

Front Neurol
Li G.
europepmc   +1 more source

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

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

Pompe disease [PDF]

, 2019
openaire   +1 more source

New insights in pediatric metabolic medicine: pathogenesis of cholesterol biosynthesis defects and innovative therapies for Pompe disease

, 2007
Rossi, Emiliano
core  

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

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

Mol Syndromol
Bayrak H, Tosun F.
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 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