Projects


The Association supports scientific research and every initiative aimed at improving the knowledge, diagnosis and treatment of methylmalonic acidemia with homocystinuria cblC.

The Association aims also to safeguard the rights of patients, to promote their social integration and improve the quality of life of both patients and their families.

The main projects supported by the Association are listed below:


Identification of compounds to rescue MMACHC functional deficiency in CBLC disease

Generazione caratterizzazione di un modello di MMACHC knock-out in Medaka

Spettrometro Thermo Scientific Q Exactive Orbitrap LC_MS/MS System

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