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Neurometabolic changes in normal white matter may predict appearance of hyperintense lesions in systemic lupus erythematosus
(Sage Publications LtdLondonInglaterra, 2007)
The energetic brain – A review from students to students
(Wiley Blackwell Publishing, Inc, 2019-10)
The past 20 years have resulted in unprecedented progress in understanding brain energy metabolism and its role in health and disease. In this review, which was initiated at the 14th International Society for Neurochemistry ...
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
(NATURE PUBLISHING GROUP, 2010)
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high concentration of L-2-hydroxyglutaric acid in plasma and cerebrospinal fluid. Distinct mutations on ...
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
(Wiley, 2022)
Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood-brain ...
Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup
(Lippincott Williams, 2012-04)
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic ...
West syndrome: A study of 26 patients receiving short-term therapy
(Academic Press Inc Elsevier Science, 2021-01)
Objective: We describe the electroclinical characteristics of a series of 26 patients with idiopathic West syndrome (WS), who had an excellent response to treatment with vigabatrin (VGB) and corticosteroids alone or in ...
Depressão experimental e tratamento agudo com cetamina: análise comportamental, neurometabólica e histofisiológica dopaminérgica
(Pontifícia Universidade Católica do Rio Grande do SulPorto Alegre, 2015)
The major depressive disorder (MDD) is a psychiatric condition which profoundly alters with the brain metabolism and neurochemistry characterized by a state of deep, chronic sadness, accompanied by anhedonia, sensation of ...