28.5kviews 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…
28.2kviewsNext 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…
2.4kviewsAccording 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…
4.1kviewsWhat 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…
18.9kviewsHave 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…
5.4kviewsToday, 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,…
