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A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III. [PDF]

J Clin Invest
Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, Vie M, Krimi Benchekroun Y, Cosette J, Bertin B, La Bella T, Dubreuil G, Nozi J, Jauze L, Fragnoud R, Daniele N, Van Wittenberghe L, Esque J, André I, Nissan X, Hoch L, Ronzitti G.   +21 more
europepmc   +1 more source

Hyperammonemia associated with glycogen storage disease type I

The Turkish Journal of Pediatrics, 1982
M Tunçer, H Yalçin, I Ozalp, M Cağlar
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Glycogen storage diseases

Nature Reviews Disease Primers, 2023
Glycogen storage diseases (GSDs) are a group of rare, monogenic disorders that share a defect in the synthesis or breakdown of glycogen. This Primer describes the multi-organ clinical features of hepatic GSDs and muscle GSDs, in addition to their epidemiology, biochemistry and mechanisms of disease, diagnosis, management, quality of life and future ...
William B. Hannah, Terry G. J. Derks, Mitchell L. Drumm, Sarah C. Grünert, Priya S. Kishnani, John Vissing   +5 more
openaire   +3 more sources

Glycogen storage diseases

Biochimie, 1972
In glycogen storage diseases, there is insufficient use of glycogen resulting in glycogen buildup, or insufficient synthesis of glycogen. There are multiple types of glycogen storage diseases, which can be classified in hepatic and myopathic forms. Types I, III, IV, VI, and IX affect liver primarily. Glycogen storage diseases that also affect
P. Jacquemin, Th. de Barsy, Pierre Devos, F. Van Hoof, Henri-Géry Hers, Louis Hue   +5 more
openaire   +3 more sources