Motor neuron disease in inherited neurometabolic disorders

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dc.citation.issue3
dc.citation.volumev. 174
dc.contributor.authorSouza, Paulo Victor Sgobbi de [UNIFESP]
dc.contributor.authorBortholin, T. [UNIFESP]
dc.contributor.authorNaylor, F. George Monteiro [UNIFESP]
dc.contributor.authorChieia, Marco Antonio Troccoli [UNIFESP]
dc.contributor.authorPinto, Wladimir Bocca Vieira de Rezende [UNIFESP]
dc.contributor.authorOliveira, Acary Souza Bulle [UNIFESP]
dc.coverageMoulineaux Cedex 9
dc.date.accessioned2020-07-20T16:31:21Z
dc.date.available2020-07-20T16:31:21Z
dc.date.issued2018
dc.description.abstractInherited neurometabolic disorders represent a growing group of inborn errors of metabolism that present with major neurological symptoms or a complex spectrum of symptoms dominated by central or peripheral nervous system dysfunction. Many neurological presentations may arise from the same metabolic defect, especially in autosomal-recessive inherited disorders. Motor neuron disease (MND), mainly represented by amyotrophic lateral sclerosis, may also result from various inborn errors of metabolism, some of which may represent potentially treatable conditions, thereby emphasizing the importance of recognizing such diseases. The present review discusses the most important neurometabolic disorders presenting with motor neuron (lower and/or upper) dysfunction as the key clinical and neuropathological feature. (C) 2017 Elsevier Masson SAS. All rights reserved.en
dc.description.affiliationFed Univ Sao Paulo UNIFESP, Dept Neurol & Neurosurg, Div Neuromuscular Dis, Vila Clementino Rua Estado Israel 899, BR-04022002 Sao Paulo, SP, Brazil
dc.description.affiliationUnifespFed Univ Sao Paulo UNIFESP, Dept Neurol & Neurosurg, Div Neuromuscular Dis, Vila Clementino Rua Estado Israel 899, BR-04022002 Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.format.extent115-124
dc.identifierhttp://dx.doi.org/10.1016/j.neurol.2017.06.020
dc.identifier.citationRevue Neurologique. Moulineaux Cedex 9, v. 174, n. 3, p. 115-124, 2018.
dc.identifier.doi10.1016/j.neurol.2017.06.020
dc.identifier.issn0035-3787
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/55893
dc.identifier.wosWOS:000428251700006
dc.language.isoeng
dc.publisherMasson Editeur
dc.relation.ispartofRevue Neurologique
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectMotor neuron diseaseen
dc.subjectAmyotrophic lateral sclerosisen
dc.subjectInborn errors of metabolismen
dc.subjectNeurogeneticsen
dc.subjectNeurometabolic disordersen
dc.titleMotor neuron disease in inherited neurometabolic disordersen
dc.typeinfo:eu-repo/semantics/review
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