Navegando por Palavras-chave "Neurometabolic disorders"

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    Motor neuron disease in inherited neurometabolic disorders
    (Masson Editeur, 2018) Souza, Paulo Victor Sgobbi de [UNIFESP]; Bortholin, T. [UNIFESP]; Naylor, F. George Monteiro [UNIFESP]; Chieia, Marco Antonio Troccoli [UNIFESP]; Pinto, Wladimir Bocca Vieira de Rezende [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]
    Inherited 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.