Browsing Health Sciences by Subject "Xantomatose cerebrotendinosa"

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    • Cerebrotendinous Xanthomatosis : a practice review of pathophysiology, diagnosis, and treatment 

      Nobrega, Paulo Ribeiro; Bernardes, Anderson Moura; Ribeiro, Rodrigo Mariano; Vasconcelos, Sophia Costa; Araujo, David Augusto Batista Sá; Gama, Vitor Carneiro de Vasconcelos; Fussiger, Helena; Santos, Carolina de Figueiredo; Dias, Daniel Aguiar; Pessoa, Andre Luis Santos; Pinto, Wladimir Bocca Vieira de Rezende; Saute, Jonas Alex Morales; Souza, Paulo Victor Sgobbi de; Braga Neto, Pedro (2024) [Journal article]
      Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the CYP27A1 gene. This bile acid metabolism disorder ...

    • Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias 

      Jacinto, Lais Alves; Machado, Gustavo Dariva; Ayres, Annelise; Burguêz, Daniela; Bonatto, Márcia Polese; González Salazar, Carelis Del Valle; Siebert, Marina; França Júnior, Marcondes Cavalcante; Olchik, Maira Rozenfeld; Saute, Jonas Alex Morales (2020) [Journal article]
      Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence ...