The recurrent p.Glu3Lys variant in EHHADH is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities by P. Rollier, A. Cospain, M. Barth, V. Milon, N. Gueguen, C. Homedan, V. Desquiret, C. Bris, E. Colin, L. Damaj, A. Ryckewaert, P. Reynier, S. Odent, P. Amati-Bonneau, V. Procaccio, D. Bonneau, A. Ziegler

Get full text