Results 151 to 160 of about 25,851 (276)

Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results. [PDF]

Nutrients
Sowa M, Boyer M, Green J, Pendyal S, Saavedra H.   +4 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

Dental and craniofacial findings in a child affected by glycogen storage disease type III

, 1994
This paper reports on previously undescribed dentofacial features a child suffering from Glycogen-Storage Disease type III with hepatomegaly and hypertransaminasemia with muscular involvement.
Filippi L., Donati M. A., Tollaro I., Pierleoni L., Baccetti T., Zammarchi E.   +5 more
core  

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

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. [PDF]

JIMD Rep, 2016
Ross KM, Brown LM, Corrado MM, Chengsupanimit T, Curry LM, Ferrecchia IA, Porras LY, Mathew JT, Weinstein DA.   +8 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

Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. [PDF]

Mol Clin Oncol, 2016
Iguchi T, Yamagata M, Sonoda T, Yanagita K, Fukahori T, Tsujita E, Aishima S, Oda Y, Maehara Y.   +8 more
europepmc   +1 more source

Case Report: Glycogen Storage Disease Type IIIa

, 2014
Glikojen depo hastalığı (GDH), glikojen sentezi ya da salınımında görevli enzimlerden birinin yokluğu veya yetersizliği sonucu gelişen, otozomol resesif geçişli doğuştan karbonhidrat metabolizması bozukluğudur.
Yasemin Altınok Atik, Mahmut Çoker, Sema Uçak Kalkan   +2 more
core  

14‐3‐3 proteins: Regulators of cardiac excitation–contraction coupling and stress responses

The Journal of Physiology, EarlyView.
Abstract figure legend 14‐3‐3 protein interactions in cardiac regulation. Schematic representation of 14‐3‐3 binding partners in excitation–contraction coupling, transcriptional regulation/development and stress response pathways. Asterisks indicate targets where the exact 14‐3‐3 binding site is unknown.
Heather C. Spooner, Rose E. Dixon
wiley   +1 more source

Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. [PDF]

JIMD Rep, 2015
Beegle RD, Brown LM, Weinstein DA.
europepmc   +1 more source