Results
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02/04/2016PKANDRS: escala de evaluación clínica testeada en 45 pacientes.
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11/23/2015In our experience PKAN patients during the first years show dystonia and later, an atypical parkinsonism.
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03/28/2015Cerebellum is the main neurological structure affected in PMM2-CDG.
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02/19/2015The usual findings in echocardiograhy often have little or no clinical implications.
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02/13/201555% of children with epilepsy need more than one antiepileptic drug.
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02/13/2015We find a correlation between the volume of the cerebellum, ataxia and cognitive functions.
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02/09/2015Growth 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...
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02/09/2015Over 95% of children have different mutations .