Sofía padece el síndrome 5p- o síndrome del maullido de gato

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


20.1kviews 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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Las enfermedades raras en datos: características y diagnóstico

Rare diseases in numbers


7kviewsNext 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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Diagnóstico e Investigación en Enfermedades Raras: ¡Avancemos¡

Rare Disease Diagnosis and Research: Let’s Make Progress


1.6kviewsAccording 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


3.2kviewsWhat 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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Deconstruyendo el Síndrome de Tourette

Deconstructing Tourette Syndrome


15.9kviewsHave 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


5kviewsToday, 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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