Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Autor Redonnet-Vernhet, I, Ploos van Amstel, J K, Jansen, R P, Wevers, R A, Salvayre, R, Levade, T
Vydáno 1996

Sight-Threatening Phenylketonuric Encephalopathy in a Young Adult, Reversed by Diet

Autor Rubin, S., Piffer, A. L. Le, Rougier, M. B., Delyfer, M. N., Korobelnik, J. F., Redonnet-Vernhet, I., Marchal, C., Goizet, C., Mesli, S., Gonzalez, C., Gin, H., Rigalleau, V.
Vydáno 2013