Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder model disorder. by Kohan, R., Cismondi, I.A., Adams, H., Bond, M., Brown, R., Cooper, J.D., Krupnik de Hidalgo, P., Kleine Holthaus, S.M., Mole, S.E., Mugnaini, J., Oller de Ramirez, A.M., Pesaola, F., Platt, F.M., Noher de Halac, I., Rautenberg, G.

“…Inherited defects in genes involved in metabolism are the commonest group of RD with over 8000 known inborn errors of metabolism. The majority of these diseases are neurodegenerative including the NCLs. …”
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