Energy metabolism in childhood neurodevelopmental disorders
EBioMedicine, 2021 Whereas energy function in the aging brain and their related neurodegenerative diseases has been explored in some detail, there is limited knowledge about molecular mechanisms and brain networks of energy metabolism during infancy and childhood.
Oyarzábal A +3 more
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Frontiers in Cellular Neuroscience, 2022 Hematopoietic stem cells have been investigated and applied for the treatment of certain neurological disorders for a long time. Currently, their therapeutic potential is harnessed in autologous and allogeneic hematopoietic stem cell transplantation ...
Pedro de Vasconcelos +2 more
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Gene therapy for lysosomal storage diseases: Current clinical trial prospects
Frontiers in Genetics, 2023 Lysosomal storage diseases (LSDs) are a group of metabolic inborn errors caused by defective enzymes in the lysosome, resulting in the accumulation of undegraded substrates.
Jun Kido +4 more
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Heliyon, 2021 Metachromatic leukodystrophy (MLD) is a human neurodegenerative disorder characterized by progressive damage on the myelin band in the nervous system. MLD is caused by the impaired function of the lysosomal enzyme Arylsulphatase A (ARSA).
Olga Y. Echeverri-Peña +6 more
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Metabolic evaluation of children with global developmental delay [PDF]
Korean Journal of Pediatrics, 2015 Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes.
So-Hee Eun, Si Houn Hahn
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
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Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children
Brain Sciences, 2020 Diseases primarily affecting the basal ganglia in children result in characteristic disturbances of movement and muscle tone. Both experimental and clinical evidence indicates that the basal ganglia also play a role in higher mental states.
Justyna Paprocka +3 more
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Neurodegeneration with Brain Iron Accumulation: Diagnosis and Management [PDF]
Journal of Movement Disorders, 2015 Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited disorders that share the clinical features of an extrapyramidal movement disorder accompanied by varying degrees of intellectual disability and abnormal iron ...
Penelope Hogarth
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Tetrahydrocannabinol in Pediatrics: Room for Improvement?
Medical Cannabis and Cannabinoids, 2023 Introduction: The use of medical cannabis in pediatrics is not common in clinical practice, and there is a lack of prospective studies, especially in pediatric subpopulations.
Charlotte De Gier +4 more
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The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 more
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