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Information kit for doctors' practices: early diagnosis of lysosomal storage disorders

Lysosomal storage disorders are among the diseases that are often diagnosed late.

Timely education and information are therefore of the utmost importance. Early treatment can significantly improve the quality of life for those affected. U-examinations for children therefore provide a good framework for clarifying risks.

We were able to support the cooperation between the German Society for Mucopolysaccharidosis and Chiesi GmbH in the development of a suitable test kit. The jointly developed test kit for U7a includes an information brochure for examining doctors, questionnaires for parents, a drawing pad for children and dry blood cards for laboratory analysis.

Society for Mucopolysaccharidoses e.V. with the support of Chiesi GmbH

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