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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:

Fall Seed Grant Autumn 2024 – Telethon

The Italian Association of Methylmalonic Acidemia with Homocystinuria CBLC APS participated in the Fall Seed Grant call for September 2024 aimed at carrying out a scientific study in compliance with a research call sponsored by the Telethon Foundation.

ERT therapy

To demonstrate in vitro that this disease can be treated with protein replacement therapy (ERT) achieving restoration of normal metabolic pathways after treatment with a recombinant MMACHC protein.

MMACHC in CBLC

Identification of a potential treatment for cobalamin C (cblC) deficiency

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MMACHC knock-out in Medaka

Generation and characterization of a MMACHC model knock-out in Medaka

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LC_MS/MS System

Spettrometro Thermo Scientific Q Exactive Orbitrap LC_MS/MS System

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