Results 71 to 80 of about 19,271 (154)

Glycophagy: molecular mechanisms, regulatory signals, and disease associations. [PDF]

Autophagy Rep
Chen L, Jiang J, Liu M, Chen L.
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Infant masking of recurrent hypoglycaemia and metabolic disease. [PDF]

BMJ Case Rep
Zhong B, Armarego M, Dignam N, Gard J.
europepmc   +1 more source

Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers. [PDF]

J Inherit Metab Dis
Xiao R, de Vries HI, Gross-Valle C, Bleeker A, Derks TGJ, Bakker BM, Oosterveer MH, Wolters JC.   +7 more
europepmc   +1 more source

Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc. [PDF]

Orphanet J Rare Dis
Sun C, Du T, Xia Y, Jiang L, Sun M, Liang L, Zhang K, Yang Y, Sun Y, Wang R, Sun Y, Xiao B, Qiu W.   +12 more
europepmc   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +1 more source

Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease

Frontiers in Neurology
Barry J. Byrne, Giancarlo Parenti, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar   +17 more
doaj   +1 more source

RNA-Based Therapies for Inherited Metabolic Disorders. [PDF]

J Inherit Metab Dis
Vootukuri RS, Gurung S, Ghosh R, Mills PB, Baruteau J, Zhou H.   +5 more
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

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source