Hospital Sant Joan de Déu
Sharing to move ahead

Results

  • ENACH-PKAN
    02/04/2016
    PKANDRS: escala de evaluación clínica testeada en 45 pacientes.
  • NBIA - PKAN
    11/23/2015
    In our experience PKAN patients during the first years show dystonia and later, an atypical parkinsonism.
  • PMM2-CDG
    03/28/2015
    Cerebellum is the main neurological structure affected in PMM2-CDG.
  • CDG syndrome
    02/19/2015
    The usual findings in echocardiograhy often have little or no clinical implications.
  • Lowe syndrome
    02/13/2015
    55% of children with epilepsy need more than one antiepileptic drug.
  • CDG syndrome
    02/13/2015
    We find a correlation between the volume of the cerebellum, ataxia and cognitive functions.
  • Lowe syndrome
    02/09/2015
    Growth hormone improves growth, muscle tone and we had no side effects registered. In some descriptions of case reports previously described that children with Lowe syndrome have an appropriate length and weight for gestational age at birth. Subsequently a slowdown is evident in the growth rate...
  • Lowe syndrome
    02/09/2015
    Over 95% of children have different mutations .