Results 111 to 120 of about 6,242,042 (194)

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

CHK1 inhibition rescues abnormal glycogen buildup in a Caenorhabditis elegans model for glycogen storage disease III. [PDF]

Commun Biol
Daghar H, Pyman B, Maios C, Doyle J, Perlstein E, Samarut É, Parker JA.   +6 more
europepmc   +1 more source

Correlation of biochemical and imaging markers with hepatic adenoma in patients with glycogen storage disease: a retrospective single-center study. [PDF]

Orphanet J Rare Dis
Ahn JH, Cha SW, Kang Y.
europepmc   +1 more source

Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy. [PDF]

J Health Econ Outcomes Res
Turner-Bowker DM, Butler J, Egan S, Weinstein DA, Rodriguez-Buritica DF, Ahmad A, Couce ML, Riba-Wolman R, Mitchell JJ, Theodore-Oklota C.   +9 more
europepmc   +1 more source

Cardiopulmonary and skeletal muscle strategies underlying exhaustive exercise in adults with glycogen storage disease type III. [PDF]

Physiol Rep
Lanfranconi F, Peli L, Pollastri L, Ferri A, Tremolizzo L, Conti E, Pieruzzi F, Miserocchi G, Beretta E, Marzorati M, Zardo W, Gasperini S, Pretese R, Paci S, Capelli C, Mariani R, Cattoni A, Balduzzi AC, Parini R.   +18 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

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX. [PDF]

Genet Med Open
Iyengar AK, Zou X, Dai J, Francis RA, Safi A, Patterson K, Koch RL, Clarke S, Beaman MM, Mohan S, Chong JX, Bamshad MJ, Majoros WH, Rehder RC, Bali DS, Allen AS, Crawford GE, Kishnani PS, Reddy TE.   +18 more
europepmc   +1 more source

Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia. [PDF]

JCEM Case Rep
Atikcan Simsek DT, Avcı Dursun EM, Senay Ozcalik M, Turhan Iyidir O, Nar A, Bascil Tutuncu N.   +5 more
europepmc   +1 more source

Case Report: Perioperative Management of a Patient with Glycogen Storage Disease Type IXd. [PDF]

Surg Case Rep
Kawata K, Otsu H, Hu Q, Tsuda Y, Nagao Y, Yonemura Y, Masuda T, Yoshizumi T, Mimori K.   +8 more
europepmc   +1 more source