Results 91 to 100 of about 80,863 (210)

Infantile extreme hypertriglyceridemia diagnosed as glycogen storage disease type Ia: A case report. [PDF]

Medicine (Baltimore)
Yuan C, Liu Y, Lyu J, Sun X, Wu J.
europepmc   +1 more source

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

Glycogen storage disease. [PDF]

BMJ, 1969
openaire   +3 more sources

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

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

Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum. [PDF]

World J Clin Pediatr
Samanta A, Ray G.
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