Results 121 to 130 of about 167,642 (275)
Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources
Heterozygous germline TET2 loss‐of‐function variants associated with an ALPS‐like phenotype
British Journal of Haematology, EarlyView.Summary Germline homozygous loss‐of‐function mutations in TET2 result in significant childhood immunodeficiency that resembles autoimmune lymphoproliferative syndrome and predisposes one to lymphoma. The implications of heterozygous variants are less well understood.
Sean Harrop +13 more
wiley +1 more source
arXiv, 2008 This article is interested in the origin of the genetic code, it puts forward a scenario of a simultaneous selection of the bases and amino acids and setting up of a correlation between them. Each amino acid is associated with a pair of its own kind, called the binding pair and each binding pair is associated with the codon(s) corresponding to the same
arxiv
Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]
, 2006 Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C. +4 more
core +1 more source
Ketotic Hypoglycaemia Following Sleeve Gastrectomy
Clinical Endocrinology, EarlyView.ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He +3 more
wiley +1 more source
Enzyme allocation problems in kinetic metabolic networks: Optimal solutions are elementary flux modes [PDF]
arXiv, 2013 The survival and proliferation of cells and organisms require a highly coordinated allocation of cellular resources to ensure the efficient synthesis of cellular components. In particular, the total enzymatic capacity for cellular metabolism is limited by finite resources that are shared between all enzymes, such as cytosolic space, energy expenditure ...
arxiv
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Inborn Errors of Metabolism in Children with Unexplained Developmental Delay in Misan, Iraq
Oman Medical Journal, 2019 Objectives: We sought to determine the prevalence of inborn errors of metabolism (IEM) in children with unexplained developmental delay and their types. Methods: We conducted a cross-sectional study in Misan, Iraq, over a period of one year.
Hassan A. Altimimi +2 more
doaj +1 more source
Toward a closed-loop subcutaneous delivery of L-DOPA [PDF]
arXiv, 2016 L-DOPA has been the gold standard treatment for Parkinson's disease since 50 years. Being the direct biochemical precursor of dopamine, L-DOPA is effectively converted in the brain, but two major phenomena reduce its therapeutic action: i) competition with amino acids in the gut wall and in the blood brain barrier and ii) its fast kinetics (absorption,
arxiv
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A study from Tawam Hospital Metabolic Center, United Arab Emirates [PDF]
, 2014 Objectives: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. Methods: The reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal ...
Al-Hamad, Sania +4 more
core +3 more sources