Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]
, 2017 Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego +8 more
core +2 more sources
, 2016 Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire +4 more sources
Cerebrospinal Fluid Metabolome in Central Nervous System Infections: A Study of Diagnostic Accuracy
Annals of Neurology, EarlyView.Objective To assess the diagnostic accuracy of metabolites in cerebrospinal fluid (CSF) for central nervous system (CNS) infections. Methods Patients were derived from three prospective cohort studies in the Netherlands. All studies included adults suspected of a CNS infection who underwent a diagnostic lumbar puncture.
Steven L. Staal +7 more
wiley +1 more source
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]
, 2019 Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R +6 more
core +1 more source
Fatal Hyperammonemic Brain Injury from Valproic Acid Exposure [PDF]
, 2012 Background: Hyperammonemia is known to cause neuronal injury, and can result from valproic acid exposure. Prompt reduction of elevated ammonia levels may prevent permanent neurological injury.
Bega, Danny +4 more
core +2 more sources
Antimicrobial Behavior of Simvastatin‐Loaded Solution Blow‐Spun PLA/PEO/HA Scaffolds
Journal of Applied Polymer Science, EarlyView.Schematic for fiber spinning. ABSTRACT The development of three‐dimensional scaffolds with suitable biological properties is of crucial importance in bone repair. Incorporating antimicrobial functionality into these scaffolds can further enhance their clinical efficacy by helping prevent infections, particularly in patients undergoing orthopedic ...
João P. A. Caribé +17 more
wiley +1 more source
Condução inicial de paciente com erro inato do metabolismo em hospital de pequeno porte [PDF]
Residência PediátricaPropionic acidemia is part of the organic acidemias that constitute a group of inherited autosomal recessive diseases caused by the deficiency of enzymes involved in the catabolism of branched-chain amino acids resulting in the tissue accumulation of one
Carla Diniz Dias Fernandes +5 more
doaj +1 more source
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
JIMD Reports, 2022 We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth.
Álvaro Martín‐Rivada +19 more
doaj +1 more source
Arthritis &Rheumatology, Accepted Article.Objective Despite availability of biologics and targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) to treat rheumatoid arthritis (RA), many patients do not experience optimized disease control. Glucocorticoids are effective but have safety risks.
Frank Buttgereit +13 more
wiley +1 more source
Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]
, 2019 Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna +6 more
core +2 more sources