Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis

por Awan, Zuhier, Aljenedil, Sumayah, Rosenblatt, David S, Cusson, Jean, Gilfix, Brian M, Genest, Jacques
Publicado 2014

The novel aminoglycoside, ELX-02, permits CTNS(W138X) translational read-through and restores lysosomal cystine efflux in cystinosis

por Brasell, Emma J., Chu, Lee Lee, Akpa, Murielle M., Eshkar-Oren, Idit, Alroy, Iris, Corsini, Rachel, Gilfix, Brian M., Yamanaka, Yojiro, Huertas, Pedro, Goodyer, Paul
Publicado 2019