Navegação Ciências da Saúde por Autor "Habekost, Clarissa Troller"

Resultados 1-2 de 2

    • Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy 

      Pereira, Fernanda dos Santos; Matte, Ursula da Silveira; Habekost, Clarissa Troller; Castilhos, Raphael Machado de; El-Husny, Antonette Souto; Lourenço, Charles Marques; Vianna-Morgante, Angela M.; Giuliani, Liane de Rosso; Galera, Marcial Francis; Honjo, Raquel S.; Kim, Chong Ae; Politei, Juan Manuel; Vargas, Carmen Regla; Jardim, Laura Bannach (2012) [Artigo de periódico]
      In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential ...

    • Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy : a case control study on a clinical, neurophysiological and biochemical characteristics 

      Habekost, Clarissa Troller; Schestatsky, Pedro; Torres, Vitor Félix; Coelho, Daniella de Moura; Vargas, Carmen Regla; Torrez, Vitor Rocco; Oses, Jean Pierre; Portela, Luis Valmor Cruz; Pereira, Fernanda dos Santos; Matte, Ursula da Silveira; Jardim, Laura Bannach (2014) [Artigo de periódico]
      Background: Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of ...