✦ LIBER ✦

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

✍ Scribed by Marion B. Coulter-Mackie; Ailin Li; Qun Lian; Eduard Struys; Sylvia Stockler; Paula J. Waters

Book ID: 118507134
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 305 KB
Volume: 106
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2012.06.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Overexpression of recombinant human anti

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

✍ Coulter-Mackie, Marion B.; Tiebout, Sylvia; van Karnebeek, Clara; Stockler, Sylv 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 353 KB

Biochemical and molecular characterizati

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

✍ Barbara Plecko; Karl Paul; Eduard Paschke; Sylvia Stoeckler-Ipsiroglu; Eduard St 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB

## Communicated by Arnold Munnich Patients with pyridoxine dependent epilepsy (PDE) present with early-onset seizures resistant to common anticonvulsants. According to the benefit of pyridoxine (vitamin B 6 ) and recurrence of seizures on pyridoxine withdrawal, patients so far have been classified