Results 11 to 20 of about 8,895 (193)
Quantitative Analysis of Neurotransmitter Pathways under Steady State Conditions – A Perspective
Frontiers in Endocrinology, 2013 In a contribution to this Research Topic Erkki Somersalo and Daniela Calvetti carried out a mathematical analysis of neurotransmitter pathways in brain, modeling compartmental nitrogen flux among several major participants – ammonia, glutamine, glutamate,
Arthur Joseph Cooper
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Journal of Pediatric and Neonatal Individualized Medicine, 2020 Phenylketonuria (PKU) is an autosomal recessive disease with important consequences on nervous system development, if not properly treated. Decrease of the antioxidative mechanisms, altered transport of amino acids through the blood-brain barrier, low ...
Florentina Moldovanu +3 more
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Macro-AST: misleading finding in an adolescent with MCAD-deficiency
BMC Gastroenterology, 2012 Background MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of ...
Das Anibh M +3 more
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Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind
Frontiers in Molecular Biosciences, 2020 The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Timothy M. Cox
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Glutaric acidemia type I. Report of a case and literature review
Iatreia, 2015 Glutaric acidemia type I (GA-1) is a neurological disease of metabolic ethiology. Although considered rare, it is one of the most frequent inborn errors of metabolism in Colombia.
Forero Sánchez, Edwin +4 more
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Neurological expression of vitamin B12 deficiency in children. [PDF]
Batna Journal of Medical SciencesThe neurological presentation of vitamin B12 deficiency, although rare, can be the initial manifestation of the clinical picture, making diagnosis difficult.
Zoulikha BENHACINE +2 more
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Recurrent Encephalopathy During Febrile Illnesses in a 6-Year-Old Boy
Global Pediatric Health, 2018 Acute onset of encephalopathy is often due to infections or intoxications, but a high index of suspicion should exist for metabolic or autoimmune causes particularly in recurrent cases.
Eliza Szuch MD, Jeanna Auriemma MD
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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
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Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report
Italian Journal of Pediatrics, 2018 Background Perinatal asphyxia (PA) occurs in about 2 to 10 per 1000 live full-term births. Although neonatal epileptic seizures are observed in up to 60% of cases, PA may mimic or subtend other conditions.
Giacomo Biasucci +3 more
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Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
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