Results 151 to 160 of about 38,348 (306)

Glycogen Storage Disease in Twins: When Two Lives Reflect One Silent Battle. [PDF]

Clin Case Rep
Shah RK, Khan SA, Devkota D, Aryal M, Subedi N, Aryal B, Gurubacharya B, Parajuli S, Gupta A, Parajuli SB, Kausar H.   +10 more
europepmc   +1 more source

Clinical, biochemical and radiological findings in children with glycogen storage disease.

, 2023
Sasui Anam, Arit Parakash, Aisha Merchant   +2 more
openalex   +2 more sources

Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III [PDF]

, 2020
Sarah P. Young, Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani   +6 more
openalex   +1 more source

Neuronal hyperexcitability: A key to unraveling hippocampal synaptic dysfunction in Lafora disease

Epilepsia, EarlyView.
Abstract Background and Objective Lafora disease (LD) is a rare progressive disorder caused by mutations in the EPM2A or EPM2B genes, characterized by the accumulation of Lafora bodies, drug‐resistant epilepsy, and cognitive decline. To investigate the early molecular mechanisms of LD, we studied electrophysiological changes in the dentate gyrus (DG ...
Cinzia Costa, Laura Bellingacci, Jacopo Canonichesi, Valentina Imperatore, Anna Aurora Taddei, Luis Zafra‐Puerta, Nerea Iglesias‐Cabeza, Paolo Prontera, Andrea Mancini, Massimiliano Di Filippo, Alessandro Tozzi, Katiuscia Martinello, Marta Barzasi, Fabrizio Gardoni, Marina P. Sánchez, José M. Serratosa, Lucilla Parnetti, Miriam Sciaccaluga   +17 more
wiley   +1 more source

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study

Orphanet Journal of Rare Diseases
DA Weinstein, RJ Jackson, EA Brennan, M Williams, JE Davison, F de Boer, TGJ Derks, C Ellerton, B Faragher, J Gribben, P Labrune, KM McKittrick, E Murphy, KM Ross, U Steuerwald, C Voillot, AJM Woodward, HR Mundy   +17 more
doaj   +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

Glycogen Storage Disease [PDF]

, 2020
openaire   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +1 more source

Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation. [PDF]

CEN Case Rep
Annicchiarico Petruzzelli L, De Marco O, Improda N, Giannattasio P, Luongo I, Carucci M, Brunetti B, Serio V, Minale B, Malgieri G.   +9 more
europepmc   +1 more source

Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

, 2009
Yoriko Endo, Ekram Fateen, Mortada El‐Shabrawi, Yoshiko Aoyama, Tetsu Ebara, Toshio Murase, Teodor Podskarbi, Yoon S. Shin, Minoru Okubo   +8 more
openalex   +2 more sources