A carregar...

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

BACKGROUND: Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully understood. Here we describe the spectrum of the long fibers involvement in HHH syn...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6708179/
https://ncbi.nlm.nih.gov/pubmed/31443672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1181-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!