✦ LIBER ✦

Novel mutations in pyridoxine-dependent epilepsy

✍ Scribed by A. Millet; G.S. Salomons; F. Cneude; C. Corne; T. Debillon; C. Jakobs; E. Struys; S. Hamelin

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Long-term outcome in pyridoxine-dependen

✍ LEVINUS A BOK; FEICO J HALBERTSMA; SASKIA HOUTERMAN; RON A WEVERS; CHARLOTTE VRE 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB

Pyridoxine dependent epilepsy characteri

📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 90 KB

The genotypic and phenotypic spectrum of

✍ Gunter Scharer; Chad Brocker; Vasilis Vasiliou; Geralyn Creadon-Swindell; Renata 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 537 KB

Two novel ALDH7A1 (antiquitin) splicing

✍ Pasquale Striano; Silvia Battaglia; Lucio Giordano; Giuseppe Capovilla; Francesc 📂 Article 📅 2009 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 220 KB

Pipecolic acid: A diagnostic marker in p

✍ Michèl A. A. P. Willemsen; Annelies M. C. Mavinkurve-Groothuis; Ron A. Wevers; J 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 1 views

Mutations in antiquitin in individuals w

✍ Mills, Philippa B; Struys, Eduard; Jakobs, Cornelis; Plecko, Barbara; Baxter, Pe 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 190 KB