Results 111 to 120 of about 13,856,572 (229)

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

, 2014
Purpose: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or catabolism. The outcome for untreated patients can be devastating.
Wang, Jing;Cui, Hong;Lee, Ni-Chung;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Craigen, William J.;Wong, Lee-Jun;Zhang, Victor Wei, 胡務亮 ;李妮鍾 ;簡穎秀   +1 more
core   +1 more source

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. [PDF]

Eur Heart J Case Rep, 2020
Lyo S, Miles J, Meisner J, Guelfguat M.
europepmc   +1 more source

Antioxidant supplementation blunts the proteome response to 3 weeks of sprint interval training preferentially in human type 2 muscle fibres

The Journal of Physiology, EarlyView.
Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma, Marta Murgia, Sigitas Kamandulis, Stefano Gastaldello, Marius Brazaitis, Audrius Snieckus, Nerijus Eimantas, Mati Pääsuke, Sebastian Edman, William Apro, Daniel C. Andersson, Håkan Westerblad, Tomas Venckunas   +12 more
wiley   +1 more source

LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE

, 1962
In recent years the classification of glycogen storage disease has been based on the demonstration of a specific enzyme defect for each type (1-4). Type I, glycogenosis or von Gierke's disease, results from the lack of glucose 6-phosphatase (1 ...
E. Williams, Esther M. Kendig, James B
core  

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

, 1996
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity.
Kishnani, P, P Kishnani, Chen, Y T, J Y Wu, Wu, J Y, Y T Chen, Y Bao, Bao, Y   +7 more
core   +1 more source

Mechanisms of haemoglobin mass expansion following heat stress

The Journal of Physiology, EarlyView.
Abstract figure legend Theorised mechanisms of heat stress‐induced erythropoiesis which may facilitate the expansion of haemoglobin mass. A, acute: heat stress‐induced renal ischaemia. Redistribution of blood flow away from the kidneys to facilitate thermoregulation during heat stress could reduce renal oxygen delivery, subsequently lowering renal PO2${
Elliott J. Jenkins, Brittany A. Edgett, Michael G. Hughes, Joshua C. Tremblay, Mike Stembridge   +4 more
wiley   +1 more source

Determinants of maximal oxygen uptake in highly trained females and males: a mechanistic study of sex differences using advanced invasive methods

The Journal of Physiology, EarlyView.
Abstract figure legend The results from this study show that maximal cardiac output, stroke volume and leg blood flow are similar between highly trained females and males after normalisation to lean body mass (LBM). However, the 10% higher haemoglobin concentration ([Hb]) and arterial O2 content in males result in higher systemic and leg O2 delivery ...
Øyvind Skattebo, Marcos Martin‐Rincon, Bjarne Rud, Joachim Nielsen, Lars Henrik N. Hegg, Andreas V. Kleive, Niels Ørtenblad, Øyvind Sandbakk, Robert Boushel, Hans‐Christer Holmberg, Jose A.L. Calbet, Jostein Hallén   +11 more
wiley   +1 more source

Born early, age fast: Consequences of premature birth on chronic disease and accelerated ageing

The Journal of Physiology, EarlyView.
Abstract figure legend ELGANs are exposed to several postnatal pro‐oxidant stressors, including ambient and supplemental oxygen, mechanical ventilation, infections, hyperalimentation, excessive glucocorticoids and intermittent hypoxia. Since endogenous antioxidant defences are underdeveloped, this imbalance promotes oxidative stress and inflammation ...
Estelle B. Gauda, Julijana Ivanovska, Dwayne Mascarenhas, Jeffrey Antwi, Atefeh Mohammadi, Bonny Jasani   +5 more
wiley   +1 more source

Glycogen storage disease type IV diagnosed biochemically. A case report.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1979
A case report of a child with glycogen storage disease type IV is presented. The diagnosis was confirmed by enzyme assay on cultured fibroblasts. Some unusual features of this disorder are discussed and the possibility of antenatal diagnosis is emphasized.
D J, Friedman, A B, Lane, S, Katz, T, Jenkins   +3 more
openaire   +1 more source

Oral manifestations in glycogen storage disease type 1b

, 1995
Glycogen storage disease type 1b is a rare metabolic disorder which affects the transport system of glucose‐6‐phosphatase metabolism. As a result, hepatomegaly, failure to thrive, renal dysfunction and recurrent infections occur in affected patients.
Drogari, E., Harokopos, E., Laskaris, G., Messaritakis, J., Salapata, Y.   +4 more
core   +1 more source