LES MALADIES LYSOSOMALES PDF

Because it was clear right from the start that there was strength, VML has chosen to open up to all lysosomal storage diseases, rare and very rare, known and less known. A positive choice as the experience shows that our 53 diseases, although different, confront the parents, patients, doctors and scientists to many common questions and issues. The support synergies, daily support, medical care and scientific approaches have benefited from this joint mobilization and experiences with each other …. Offer help and support to patients and their families Foster scientific and medical knowledge Promote the work of VML and help fund programs Overcoming Lysosomal Diseases is a non-profit association Law of 1 July , created in and recognized of public utility by decree of 6 December Introduction Who are we?

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VML - Overcoming Lysosomal Diseases

It was the first lysosomal disorders association to be created in France and has today members, 13, donors and some volunteers. Since its creation, it aims to:. I want people to understand that research is everybody's business, whether they're sick or healthy,' says Jean-Guy Duranceau, President of the association since The problem begins with a deficiency or malfunction of a particular enzyme in the body, so the enzyme cannot properly rid cells of waste material. Waste products accumulate in the lysosomes of cells, which leads to disruption of cell function. To date, only 7 lysosomal disorders are treatable.

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The lysosomal storage disorders LSD comprise a heterogeneous group of inborn errors of metabolism. The resulting enzymatic defect leads to accumulation of its substrate in the lysosome. Their clinical patterns reflect the site of substrate storage. Central nervous system involvement is often present in the younger patients affected by the most severe phenotypes. Substantial progress has been made in the pathophysiological knowledge, leading to new therapeutic options in LSD. This treatment reduces lysosomal storage, and sometimes reduces, but most often limits the progression of visceral involvement and of its clinical consequences. However, ERT does not cross the blood-brain barrier and is ineffective on neurological symptoms.

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