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Diagnóstico e Investigación en Enfermedades Raras: ¡Avancemos¡

Rare Disease Diagnosis and Research: Let’s Make Progress


According to the World Health Organization (WHO), a rare disease is one that occurs infrequently or rarely,and affectsa very small number of people worldwide. In the EU, diseases with a prevalence offewer than 5 in…

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El Síndrome X frágil contado desde dentro

Fragile X syndrome as told from an insider


What is fragile X syndrome? Fragile X syndrome (FXS) is an inherited genetic conditioncaused by a defect in the FMR1 gene located on the X chromosome; this gene provides instructions for making a protein called…

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Las enfermedades raras en datos: características y diagnóstico

Rare diseases in numbers


Next Thursday, February 28th, is Rare Disease Day 2019. NeuronUP would like to take this opportunity to give visibility to those who suffer from rare diseases throughout the week. Today, we are providing the most significant…

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El síndrome 5p- y la efectividad de la rehabilitación neuropsicológica: la historia de Sofía

5p- syndrome and effectiveness of neuropsychological rehabilitation: the story of Sofía


 What is 5p- syndrome? 5p- syndrome is arare genetic disorder caused by a deletion of part of the short arm of chromosome 5.This condition is characterized bya distinctive cat-like cry inaffectedinfants, due to anomalies of…

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Deconstruyendo el Síndrome de Tourette

Deconstructing Tourette Syndrome


Have you heard of Tourette syndrome? In Spain, it is still considered a rare disease based on its prevalence in the population. However, studies at the international level indicate that the disorder is actually much…

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Las enfermedades raras no son invisibles.3Millones de españoles lo saben

Rare Diseases are not invisible


Today, Rare Disease Day 2017, NeuronUP would like to take this opportunity to give voice to 350 million people worldwide who suffer from a rare disease. What is a rare disease? When speaking of a rare disease,…

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