Results 81 to 90 of about 21,421 (302)
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Cell Reports, 2015 A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process.
Julie Thompson Legault +39 more
doaj +1 more source
Integration of Genome-Wide SNP Data and Gene-Expression Profiles Reveals Six Novel Loci and Regulatory Mechanisms for Amino Acids and Acylcarnitines in Whole Blood. [PDF]
PLoS Genetics, 2015 Profiling amino acids and acylcarnitines in whole blood spots is a powerful tool in the laboratory diagnosis of several inborn errors of metabolism. Emerging data suggests that altered blood levels of amino acids and acylcarnitines are also associated ...
Ralph Burkhardt +14 more
doaj +1 more source
Metabolomics analysis of children with autism, idiopathic-developmental delays, and Down syndrome. [PDF]
, 2019 Although developmental delays affect learning, language, and behavior, some evidence suggests the presence of disturbances in metabolism are associated with psychiatric disorders.
Abbeduto, Leonard +3 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
A 3-Step Process to Estimate Phenylalanine in Commercial Foods for PKU Management
IEEE Access, 2018 Phenylalanine (Phe) is a key nutrient in the dietary management of the metabolic disease phenylketonuria (PKU). To give more freedom to PKU patients, we propose a numerical process to estimate the Phe content of a commercial food using the information ...
Jieun Kim +2 more
doaj +1 more source
Exploration, EarlyView.We developed a spatiotemporal targeting oncolytic bacterial therapy system, the STEPT (spatiotemporal targeting EcN‐pfo terminator) system, which injects azide hyaluronic acid hydrogel into tumors to capture DBCO‐labeled engineered Escherichia coli Nissle 1917 (EcN).
Yu‐Jia Wang +9 more
wiley +1 more source
Spectrum of Organic Aciduria Diseases in Tunisia: A 35-year Retrospective Study
Saudi Journal of Medicine and Medical SciencesBackground: Organic aciduria diseases (OADs) occur worldwide, with differences in prevalence and patterns between populations. Objectives: To describe the spectrum of OADs identified in Tunisia over a 35-years period.
Awatef Jelassi +8 more
doaj +1 more source
Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation [PDF]
, 2018 Summary: Results of plasma or urinary amino acids are used for suspicion, confirmation or exclusion of diagnosis, monitoring of treatment, prevention and prognosis in inborn errors of amino acid metabolism.
Bachmann, Claude
core
From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes
Advanced Genetics, EarlyView.This review begins with an introduction, summarizing the research background in pseudogene studies. It then contains three aspects: identification of pseudogenes, detailing their classification and features in metazoan genomes; functional pseudogenes, introducing their reactivation and regulation mechanisms; and pseudogenes’ contribution to species ...
Mengyao Sun, Yanni Ma, Jia Yu
wiley +1 more source