Results 51 to 60 of about 25,995 (351)
Vaccination strategies for people living with inborn errors of metabolism in Brazil
Jornal de Pediatria, 2023 Objective: Through a literature review, make recommendations regarding immunizations in people living with Inborn Error of Metabolism (IEM) in Brazil, assess the possible impact on metabolic decompensations after immunization, and if this specific ...
Barbara C.F. Ramos +6 more
doaj +1 more source
ATF5‐Dependent GDF15 Expression Mediates Anesthesia‐Induced Neuroprotection Against Stroke
Advanced Science, EarlyView.Anesthesia‐induced preconditioning protects against perioperative stroke. By manipulating ATF5 in excitatory neurons, it is shown that anesthesia‐driven ATF5 upregulation activates the mitochondrial unfolded protein response (UPRmt) and elevates GDF15 expression.
Xianshu Ju +11 more
wiley +1 more source
CLASSIC MAPLE SYRUP URINE DISEASE IN A 46-DAY-OLD BABY: A CASE REPORT [PDF]
Khyber Medical University Journal, 2018 Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism secondary to enzyme defect that breaks down branched-chain amino acid (BCAA).
Zara Idrees +3 more
doaj
Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient‐Derived Brain Organoids
Advanced Science, EarlyView.Patient‐derived POLG‐mutant cortical organoids reveal neuronal subtype‐specific mitochondrial and synaptic defects, with dopaminergic neurons most affected. Metformin treatment restores neuronal identity, mitochondrial function, and excitability, increased mtDNA maintenance, and reprogrammed metabolism via TCA and redox pathways.
Zhuoyuan Zhang +6 more
wiley +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
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 ...
Larsson Agne, Ristoff Ellinor
openaire +3 more sources
Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism
Advanced Science, EarlyView.Fluorinated carnitines, fluoromethyl carnitine (FMC) and [18F]fluoromethyl carnitine ([18F]FMC), are synthesised and established as powerful probes to interrogate carnitine biology. The multimodal detection facilitated by fluorine labelling, including 19F NMR, mass spectrometry, and positron emission tomography imaging, allowed for visualisation of ...
Richard S. Edwards +8 more
wiley +1 more source
Leukotriene C4-Synthesis Deficiency
Pediatric Neurology Briefs, 1998 A leukotriene C4-synthesis deficiency, a new inborn error of eicosanoid metabolism characterized by hypotonia, microcephaly, failure to thrive, and retarded development, is described in an infant who died aged 6 months after a rapidly progressive course ...
J Gordon Millichap
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
Advanced Science, EarlyView.The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang +16 more
wiley +1 more source