Results 201 to 210 of about 130,693 (343)

Development and Preliminary Psychometric Evaluation of the Glycogen Storage Disease Type Ia Functional Assessment Diary (GSD FAD). [PDF]

Patient Prefer Adherence
Turner-Bowker DM, Egan S, Butler J, Jewett A, Mitragotri D, Foster B, Skrinar A, Theodore-Oklota C.   +7 more
europepmc   +1 more source

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, EarlyView.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Mosaic pathogenic <i>PRKAG2</i> variant and pathologic diagnosis of glycogen storage disease in an infant with negative whole-genome sequencing. [PDF]

JHLT Open
Cabido V, Huang Y, Halnon N, Fan J, Touma M, Fishbein GA, Husain M.   +6 more
europepmc   +1 more source

Phosphate and acidosis cause fibre‐typespecific changes to cellular and molecular contractile mechanics at 37°C in skeletal muscle from older adults

Experimental Physiology, EarlyView.
Abstract Intracellular accumulation of hydrogen ions (H+) and inorganic phosphate (Pi) has temperature‐dependent effects on single‐fibre contractile function between 10°C and 30°C. In vivo, human skeletal muscle temperatures range between 35‐39°C, and although contractile function is highly dependent on temperature, the effects of fatigue‐inducing [H+]
Brent A. Momb, Jane A. Kent, Stuart R. Chipkin, Mark S. Miller   +3 more
wiley   +1 more source

Effects of Extended-Release Cornstarch Supplementation on Glycemic Stability and Metabolic Parameters in Korean Patients with Glycogen Storage Disease. [PDF]

Nutrients
Han J, Kim M, Lee NY, Kang Y.
europepmc   +1 more source

Placental mitochondrial metabolic adaptation maintains cellular energy balance in pregnancy complicated by gestational hypoxia

The Journal of Physiology, EarlyView.
Abstract figure legend Placental mitochondrial adaptation to gestational hypoxia. Hypoxic pregnancy in sheep increases placental insulin like growth factor 2 (IGF2) signalling (1), which is associated with a shift in capacity away from β‐oxidation (2) and complex I‐mediated respiration (3), while maintaining total oxidative phosphorylation capacity (4).
Wen Tong, Beth J. Allison, Kirsty L. Brain, Olga V. Patey, Youguo Niu, Kimberley J. Botting, Sage G. Ford, Tess A. Garrud, Peter F. B. Wooding, Qiang Lyu, Lin Zhang, Jin Ma, Alice P. Sowton, Katie A. O'Brien, Tereza Cindrova‐Davies, Hong Wa Yung, Graham J. Burton, Andrew J. Murray, Dino A. Giussani   +18 more
wiley   +1 more source

Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials. [PDF]

J Neurol
Hogrel JY, Fer F, Ledoux I, Petit F, Darce-Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforêt P, Decostre V.   +11 more
europepmc   +1 more source

Fetal glucose availability: a key regulator of the metabolic, hormonal and contractility profiles of the fetal sheep heart

The Journal of Physiology, EarlyView.
Abstract figure legend To investigate the role of glucose availability in fetal left ventricle (LV) development, this study assessed whether maternal late gestation undernutrition (LGUN; 50% of Control diet) induced alterations in the contractility, metabolic, and hormonal profile can be ameliorated in LGUN fetuses receiving glucose infusion (LGUN+G ...
Melanie R. Bertossa, Jack R. T. Darby, Stacey L. Holman, Steven K. S. Cho, Ashley S. Meakin, Mitchell C. Lock, Jordan A. Minns, Michael D. Wiese, Christopher K. Macgowan, Mike Seed, Janna L. Morrison   +10 more
wiley   +1 more source

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

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

Journal of Immunology, 2017
D. Melis, F. Carbone, Giorgia Minopoli, Claudia La Rocca, F. Perna, V. De Rosa, M. Galgani, G. Andria, G. Parenti, G. Matarese   +9 more
semanticscholar   +1 more source