Results 11 to 20 of about 2,606 (136)
Recognition, investigation and management of mitochondrial disease [PDF]
, 2017 Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are ...
Davison, JE, Rahman, S
core +1 more source
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]
, 2017 : Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller +25 more
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Creatine supplementation during pregnancy: summary of experimental studies suggestion a treatment to improve fetal and neonatal morbidity and reduce mortality in high-risk human pregnancy [PDF]
, 2014 While the use of creatine in human pregnancy is yet to be fully evaluated, its long-term use in healthy adults appears to be safe, and its well documented neuroprotective properties have recently been extended by demonstrations that creatine improves ...
Dickinson, Hayley +5 more
core +2 more sources
Investigation of hepatocyte signaling pathways in chronic kidney disease : clinical and experimental studies [PDF]
, 2016 Chronic kidney disease (CKD) is defined as a loss of renal function from any cause and lasting for more than three months. The CKD phenotype is similar across multiple etiologies, suggesting that renal damage itself is a dominant factor. Thus, regardless
Li, Meng
core +1 more source
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Mechanisms Underlying Rapid Aldosterone Effects in the Kidney [PDF]
, 2011 The steroid hormone aldosterone is a key regulator of electrolyte transport in the kidney, and contributes to both homeostatic whole body electrolyte balance and also to the development of renal and cardiovascular pathologies.
Harvey, Brian J, Thomas, Warren
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Genetic diseases of renal phosphate handling [PDF]
, 2006 UNLABELLED: Renal control of systemic phosphate homeostasis is critical as evident from inborn and acquired diseases causing renal phosphate wasting. At least three transport proteins are responsible for renal phosphate reabsorption: NAPI-IIa (SLC34A1 ...
Wagner, Carsten A. +3 more
core +3 more sources
British Journal of Clinical Pharmacology, EarlyView.Abstract Background and Purpose Drug–drug interactions (DDIs) are associated with an increased risk of adverse drug reactions (ADRs). Hospitalized children are particularly vulnerable to DDIs and ADRs due to polypharmacy, frequent use of unlicensed or off‐label medications, and dosing regimens often extrapolated from adult data.
Emilie Laval +6 more
wiley +1 more source