Results 221 to 230 of about 25,851 (276)

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

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

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

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

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

European Journal of Pediatrics, 2002
Life-expectancy in glycogen storage disease type I (GSD I) has improved considerably. Its relative rarity implies that no metabolic centre has experience of large series of patients and experience with long-term management and follow-up at each centre is limited. There is wide variation in methods of dietary and pharmacological treatment.
Philippe Labrune, Kurt Ullrich, G Peter A Smit   +2 more
exaly   +7 more sources

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Renal Disease in Type I Glycogen Storage Disease

New England Journal of Medicine, 1988
Although kidney enlargement occurs in Type I glycogen storage disease, renal disease has not been considered a major problem. Death from renal failure in three patients known to us prompted a study of renal function in this disorder. Of the 38 patients with Type I glycogen storage disease under our care, the 18 children under 10 years old had normal ...
Yuan-Tsong Chen, Rosalind A Coleman, Jon I Scheinman   +2 more
exaly   +4 more sources