Results 1 to 10 of about 8,895 (193)

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, Musokhranova U, Barros LF, García-Cazorla A   +3 more
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Hematopoietic Stem Cell Transplantation for Neurological Disorders: A Focus on Inborn Errors of Metabolism

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, João F. Lacerda, João F. Lacerda   +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, Jun Kido, Keishin Sugawara, Kimitoshi Nakamura, Kimitoshi Nakamura   +4 more
doaj   +1 more source

Use of a neuron-glia genome-scale metabolic reconstruction to model the metabolic consequences of the Arylsulphatase a deficiency through a systems biology approach

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, Diego A. Salazar-Barreto, Alexander Rodríguez-Lopez, Janneth González, Carlos J. Alméciga-Díaz, Cristian H. Verano-Guevara, Luis A. Barrera   +6 more
doaj   +1 more source

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
doaj   +1 more source

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, Magdalena Machnikowska-Sokołowska, Katarzyna Gruszczyńska, Ewa Emich-Widera   +3 more
doaj   +1 more source

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
doaj   +1 more source

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, Christian Scharinger, Rosa H. Stark, Philipp Steurer, Claudia M. Klier   +4 more
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Possible role of tryptophan metabolism along the microbiota-gut-brain axis on cognitive & behavioral aspects in Phenylketonuria

Pharmacological Research, 2023
Cognitive and psychiatric disorders are well documented across the lifetime of patients with inborn errors of metabolism (IEMs). Gut microbiota impacts behavior and cognitive functions through the gut-brain axis (GBA).
Sara Parolisi, Chiara Montanari, Elisa Borghi, Chiara Cazzorla, Juri Zuvadelli, Martina Tosi, Rita Barone, Giulia Bensi, Cristina Bonfanti, Carlo Dionisi Vici, Giacomo Biasucci, Alberto Burlina, Maria T. Carbone, Elvira Verduci   +13 more
doaj   +1 more source

Extensive Anti-CoA Immunostaining in Alzheimer’s Disease and Covalent Modification of Tau by a Key Cellular Metabolite Coenzyme A

Frontiers in Cellular Neuroscience, 2021
Alzheimer’s disease (AD) is a neurodegenerative disorder, accounting for at least two-thirds of dementia cases. A combination of genetic, epigenetic and environmental triggers is widely accepted to be responsible for the onset and development of AD ...
Tammaryn Lashley, Tammaryn Lashley, Maria-Armineh Tossounian, Neve Costello Heaven, Neve Costello Heaven, Samantha Wallworth, Sew Peak-Chew, Aaron Bradshaw, J. Mark Cooper, Rohan de Silva, Surjit Kaila Srai, Oksana Malanchuk, Valeriy Filonenko, Margreet B. Koopman, Margreet B. Koopman, Stefan G. D. Rüdiger, Stefan G. D. Rüdiger, Mark Skehel, Ivan Gout, Ivan Gout   +19 more
doaj   +1 more source