Results 91 to 100 of about 2,741,348 (370)
Dysmorphology of inborn errors of metabolism [PDF]
Molecular Cytogenetics, 2014 As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire +3 more sources
Tandem Mass Neonatal Screening in Taiwan—Report from One Center
Journal of the Formosan Medical Association, 2006 Neonatal screening using tandem mass spectrometry (MS/MS) started in Taiwan in 2000. We evaluated the efficacy of this system by analyzing the frequency of diseases and the outcome of the patients identified.
Hsiang-Po Huang +6 more
doaj +1 more source
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
Nutrition Reviews, 2009 Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire +5 more sources
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment [PDF]
, 2016 Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously.
Akyol, G +10 more
core +1 more source
Status epilepticus and coma leading to death in a boy caused by Medium Chain Acyl CoA dehydrogenase deficiency [PDF]
, 2020 MCADD(Medium-chain acyl-coenzyme A dehydrogenase deficiency) is an autosomal recessive disorder of fatty acid β-oxidation with prevalence of 1/1000 EU(Europian) countries and some more prevalence in the middle east and Arabian countries with close ...
abasi, ezatollah +4 more
core +2 more sources
Genotype networks, innovation, and robustness in sulfur metabolism [PDF]
arXiv, 2010 Metabolic networks are complex systems that comprise hundreds of chemical reactions which synthesize biomass molecules from chemicals in an organism's environment. The metabolic network of any one organism is encoded by a metabolic genotype, defined by a set of enzyme-coding genes whose products catalyze the network's reactions. Each metabolic genotype
arxiv
Exploration, EarlyView.Auditory brain‐computer interface connects the brain with external devices and decodes neural signals related to auditory perception. Time‐domain and frequency‐domain analyses are commonly used to identify biomarkers associated with auditory rehabilitation, such as cortical auditory evoked potentials and mismatch negativity.
Qi Zheng +6 more
wiley +1 more source
LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
, 1983 A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper +15 more
core +1 more source
Glia, EarlyView.CoPAN affects CoA biosynthesis and leads to iron dyshomeostasis. CoPAN d‐astrocytes show ferroptosis, iron accumulation, senescence, lipid peroxidation, mitochondrial damage and tubulin acetylation loss. Astrocytes recapitulate CoPAN disease. ABSTRACT COASY protein‐associated neurodegeneration (CoPAN) is a rare autosomal recessive disorder within the ...
Anna Cozzi +8 more
wiley +1 more source