Results 71 to 80 of about 57,504 (328)
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source
Antimicrobial Behavior of Simvastatin‐Loaded Solution Blow‐Spun PLA/PEO/HA Scaffolds
Journal of Applied Polymer Science, EarlyView.Schematic for fiber spinning. ABSTRACT The development of three‐dimensional scaffolds with suitable biological properties is of crucial importance in bone repair. Incorporating antimicrobial functionality into these scaffolds can further enhance their clinical efficacy by helping prevent infections, particularly in patients undergoing orthopedic ...
João P. A. Caribé +17 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2020 Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares +13 more
doaj
Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty +5 more
doaj
The incidence of portal vein thrombosis at liver transplantation [PDF]
, 1992 The incidence of portal vein thrombosis was examined in 885 patients who received orthotopic liver transplantations for various end‐stage liver diseases between 1989 and 1990. The thrombosis was classified into four grades.
Iwatsuki, S +3 more
core +1 more source
Arthritis &Rheumatology, Accepted Article.Objective Despite availability of biologics and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.
Frank Buttgereit +13 more
wiley +1 more source
Angelman syndrome and isovaleric acidemia: What is the link?
Molecular Genetics and Metabolism Reports, 2015 We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht +9 more
doaj +1 more source
Cells, 2019 Inborn errors of monoamine neurotransmitter biosynthesis and degradation belong to the rare inborn errors of metabolism. They are caused by monogenic variants in the genes encoding the proteins involved in (1) neurotransmitter biosynthesis (like tyrosine
S. Jung-Klawitter +1 more
semanticscholar +1 more source
Treatment of inborn errors of metabolism [PDF]
Molecular Cytogenetics, 2014 Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire +3 more sources
The neuropsychiatry of inborn errors of metabolism [PDF]
Journal of Inherited Metabolic Disease, 2013 AbstractA number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early ...
Ramon Mocellin +5 more
openaire +4 more sources