Results 31 to 40 of about 2,700,321 (328)
Clinical pathways for inborn errors of metabolism: warranted and feasible
Orphanet Journal of Rare Diseases, 2013 Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve ...
Demirdas Serwet +8 more
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A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders
Frontiers in Neurology, 2020 Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
Juan Darío Ortigoza-Escobar
doaj +1 more source
Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other
Metabolites, 2022 In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme.
Namgyu Lee, Dohoon Kim
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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
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
A rare inborn error of metabolism masquerading as meningitis
Medical Journal of Dr. D.Y. Patil University, 2016 We hereby describe a 7-month-old female baby, born to first-degree cousins, who was initially diagnosed as meningitis based on the features of seizures and dystonia with fever.
Madhumita Nandi +2 more
doaj +1 more source
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
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
Nature Communications, 2022 Hereditary tyrosinemia type 1 (HT1) is an inborn error of metabolism caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Here, the authors show in an animal model that HT1 can be treated via in vivo portal vein administration of a lentiviral ...
Clara T. Nicolas +15 more
doaj +1 more source
Metabolites, 2023 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism where high phenylalanine (Phe) concentrations cause irreversible intellectual disability that can be prevented by newborn screening and early treatment. Evidence suggests that PKU
María Jesús Leal-Witt +8 more
doaj +1 more source