Results 91 to 100 of about 20,098 (149)

Cell Death in Skeletal Muscle Diseases: Diverse Roles and Pathological Processes. [PDF]

Cells
Yang YL, Guo L.
europepmc   +1 more source

Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid. [PDF]

Cell Mol Biol Lett
Le Guillou E, Segaloni A, Gadault A, Oliveira Dias C, Henneman NF, Su M, Nemazanyy I, Hifdi N, Nivet-Antoine V, Laemmerhofer M, Hnia K, Caillaud C, Panasyuk G.   +12 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

Identification of alterations of immunometabolism associated with Pompe disease. [PDF]

Cell Mol Life Sci
Costa-Verdera H, Gargaro M, Cagin U, Manni G, Scalisi G, Veron P, Silva Barcelos EC, Pieroni B, Mencarelli G, Ricciuti D, Nemazanyy I, Sanatine P, van Wittenberghe L, Laforêt P, Gross DA, Ronzitti G, Fallarino F, Mingozzi F.   +17 more
europepmc   +1 more source

When 'Liver Enzymes' Are Not Hepatic: Late-Onset Pompe Disease. [PDF]

Med J Aust
Madigan S, England G, Rankin W.
europepmc   +1 more source

Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III. [PDF]

JHEP Rep
Montalvo-Romeral V, Jauze L, Perrot G, Amaouche M, Gardin A, Aguilar González A, Leblond A, Zitoun-Ardon C, Evrard F, Cosette J, Tatout C, Bordier F, Bertil-Froidevaux E, Georger C, van Wittenberghe L, Paradis V, Gay S, Dujardin F, Maillot F, Gautier-Stein A, Mithieux G, Malfatti E, Mussini C, Labrune P, Mayeuf-Louchart A, Ronzitti G, Rajas F.   +26 more
europepmc   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

Danon Disease Diagnosed by Multimodal Imaging. [PDF]

JACC Case Rep
Li X, Yang W, Zhang X, Xu H, Wang R.
europepmc   +1 more source