Results 101 to 110 of about 2,741,348 (370)
Astroglial CB1 Reveal Sex‐Specific Synaptic Effects of Amphetamine
Glia, EarlyView.Astroglial CB1R mediates long‐term synaptic plasticity (LTD) in the Nucleus accumbens. Amphetamine saturates adenosine receptors and blocks LTD in males, but not females. Locomotor effects of amphetamine require astroglial CB1R in males, but not in females.
Yamuna Mariani +15 more
wiley +1 more source
Parkinsonism and inborn errors of metabolism
Journal of Inherited Metabolic Disease, 2014 AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
S. T. Duarte, Angels García-Cazorla
openaire +3 more sources
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency [PDF]
, 2009 3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy.
Chan, Alicia K. +3 more
core +3 more sources
Predicting metabolic biomarkers of human inborn errors of metabolism
Molecular Systems Biology, 2009 Early diagnosis of inborn errors of metabolism is commonly performed through biofluid metabolomics, which detects specific metabolic biomarkers whose concentration is altered due to genomic mutations.
Tomer Shlomi +2 more
doaj +1 more source
Network-based confidence scoring system for genome-scale metabolic reconstructions [PDF]
arXiv, 2010 Reliability on complex biological networks reconstructions remains a concern. Although observations are getting more and more precise, the data collection process is yet error prone and the proofs display uneven certitude. In the case of metabolic networks, the currently employed confidence scoring system rates reactions according to a discretized ...
arxiv
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency
Molecular Genetics and Metabolism Reports, 2019 Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD).
Ernie Zuraida Ali +2 more
doaj
Biochemistry and Molecular Biology PBL Cases
MedEdPORTAL, 2006 This resource is a collection of six problem-based learning (PBL) cases suitable for a biochemistry and molecular biology course taken by first- or second-year medical students.
Marshall Anderson
doaj +1 more source
Illuminating Immunity: A Systematic Review of Immune Cell Autofluorescence
Journal of Biophotonics, EarlyView.ABSTRACT Immunophenotyping provides valuable prognostic and diagnostic information, but is technically complex and expensive. The assessment of autofluorescence is label‐free and provides complex information on cell identity. However, research on its application to immunophenotyping has been heterogenous.
Aline Knab +4 more
wiley +1 more source
Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report [PDF]
, 2010 Background: The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase defi ciency. Fabry disease (
A MacDonald +16 more
core +3 more sources