Gene therapy for glycogen storage diseases
DD Koeberl, RL Koch, JA Lim… - Journal of Inherited …, 2024 - Wiley Online Library
Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …
A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis
CJ Arends, LH Wilson, A Estrella, OS Kwon… - International Journal of …, 2022 - mdpi.com
Glycogen storage disease type IX (GSD-IX) constitutes nearly a quarter of all GSDs. This
ketotic form of GSD is caused by mutations in phosphorylase kinase (PhK), which is …
ketotic form of GSD is caused by mutations in phosphorylase kinase (PhK), which is …
Synergistic action between a synthetic cannabinoid compound and tramadol in neuropathic pain rats
GN Quiñonez-Bastidas, U Osuna-Martínez… - Acta …, 2022 - hrcak.srce.hr
Sažetak In the present study the interaction of cannabinoid, PhAR-DBH-Me [(R, Z)-18-((1S,
4S)-5-methyl-2, 5-diazabicyclo [2.2. 1] heptan-2-yl)-18-oxooctadec-9-en-7-ylphenylacetate] …
4S)-5-methyl-2, 5-diazabicyclo [2.2. 1] heptan-2-yl)-18-oxooctadec-9-en-7-ylphenylacetate] …
Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease
Hepatic glycogen storage disease type IX γ2 (GSD IX γ2) is a severe, liver-specific subtype
of GSD IX. While all patients with hepatic GSD IX present with similar symptoms, over 95% of …
of GSD IX. While all patients with hepatic GSD IX present with similar symptoms, over 95% of …
A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants
Y Shao, T Li, M Jiang, J Xu, Y Huang, X Li, R Zheng… - BMC pediatrics, 2022 - Springer
Background Pathogenic mutations in the PHKG2 are associated with a very rare disease—
glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease …
glycogen storage disease IXc (GSD-IXc)—and are characterized by severe liver disease …
[PDF][PDF] Análisis bioinformático de las rutas metabólicas de carbohidratos en tallo y cerebelo en un modelo de tubulinopatías
LICQ FARMACOBIÓLOGO - 2022 - repositorioinstitucional.buap.mx
Me encuentro infinitamente agradecido con Dios, que ha puesto cada peldaño, sabiduría y
entendimiento, agradezco por la salud, bienestar, por guardarme de todo peligro en todo …
entendimiento, agradezco por la salud, bienestar, por guardarme de todo peligro en todo …