Results 51 to 60 of about 2,734,131 (399)
Linear Response Theory of Evolved Metabolic Systems [PDF]
, 2022 Predicting cellular metabolic states is a central problem in biophysics. Conventional approaches, however, sensitively depend on the microscopic details of individual metabolic systems. In this Letter, we derived a universal linear relationship between the metabolic responses against nutrient conditions and metabolic inhibition, with the aid of a ...
arxiv +1 more source
Developments in evidence creation for treatments of inborn errors of metabolism
Journal of Inherited Metabolic Disease, 2020 Inborn errors of metabolism (IEM) represent the first group of genetic disorders, amenable to causal therapies. In addition to traditional medical diet and cofactor treatments, new treatment strategies such as enzyme replacement and small molecule ...
S. Stockler-Ipsiroglu +5 more
semanticscholar +1 more source
An Approach to Neurometabolic Epilepsy in Children with an Underlying [PDF]
, 2020 ObjectiveAlthough in born errors of metabolism are rare, but total prevalence is . approximately 40-60% of IEM (inborn errors of metabolism)may present with epilepsy as one of the main clinical presentations and substantial number of them have specific ...
Habibi, Parinaz, Karimzadeh, Parvaneh
core +2 more sources
Liver Transplantation, EarlyView., 2022 Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala +6 more
wiley +1 more source
Journal of Global Health, 2018 Background Inborn errors of metabolism (IEM) are a group of over 500 heterogeneous disorders resulting from a defect in functioning of an intermediate metabolic pathway.
Donald Waters +5 more
semanticscholar +1 more source
Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism
Journal of Translational Genetics and Genomics, 2020 Many inborn errors of metabolism and genetic disorders affect the brain. The brain biochemistry may differ from that in the periphery and is not accessible by simple blood and urine sampling.
A. Gropman, Afrouz A. Anderson
semanticscholar +1 more source
Novel MTO1 mutations associated with an intrafamilial phenotypic variability
Egyptian Journal of Medical Human Genetics, 2023 Background Mitochondrial diseases are a group of rare inborn metabolic disorders with multi-systemic manifestations. MTO1 gene mutations are associated with MTO1 (Mitochondrial tRNA Translation Optimization 1) protein deficiency, a mitochondrial disorder,
Catarina Maria Almeida +4 more
doaj +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
Inborn errors in the metabolism of glutathione [PDF]
Orphanet Journal of Rare Diseases, 2007 Glutathione is a tripeptide composed of glutamate, cysteine and glycine. Glutathione is present in millimolar concentrations in most mammalian cells and it is involved in several fundamental biological functions, including free radical scavenging, detoxification of xenobiotics and carcinogens, redox reactions, biosynthesis of DNA, proteins and ...
Ellinor Ristoff, Agne Larsson
openaire +4 more sources
The large-scale organization of metabolic networks [PDF]
Nature, v407 651-654 (2000), 2000 In a cell or microorganism the processes that generate mass, energy, information transfer, and cell fate specification are seamlessly integrated through a complex network of various cellular constituents and reactions. However, despite the key role these networks play in sustaining various cellular functions, their large-scale structure is essentially ...
arxiv +1 more source