Results 31 to 40 of about 2,741,348 (370)
Molecular Genetics and Metabolism Reports, 2022 Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hela Hajji +15 more
doaj
Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby
Asian Journal of Medical Sciences, 2013 Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
doaj +1 more source
Contributing Components of Metabolic Energy Models to Metabolic Cost Estimations in Gait [PDF]
, 2023 Objective: As metabolic cost is a primary factor influencing humans' gait, we want to deepen our understanding of metabolic energy expenditure models. Therefore, this paper identifies the parameters and input variables, such as muscle or joint states, that contribute to accurate metabolic cost estimations.
arxiv +1 more source
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
doaj +1 more source
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
Evolving Inborn Knowledge For Fast Adaptation in Dynamic POMDP Problems [PDF]
, 2020 Rapid online adaptation to changing tasks is an important problem in machine learning and, recently, a focus of meta-reinforcement learning. However, reinforcement learning (RL) algorithms struggle in POMDP environments because the state of the system, essential in a RL framework, is not always visible. Additionally, hand-designed meta-RL architectures
arxiv +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
doaj +1 more source
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
Immunometabolism, vascular function and atherosclerosis [PDF]
, 2022 Cardiovascular disease (CVD) is among the leading causes of death worldwide and atherosclerosis is the primary underlying cause. Several studies in humans have shown that elevated blood leukocytes increase CVD risk.
La Rose, Anouk
core +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