Brain Biomarkers of Long-Term Outcome of Neonatal Onset Urea Cycle Disorder

• Główni autorzy: Maha Mourad (Autor), Johannes Häberle (Autor), Matthew T. Whitehead (Autor), Tamar Stricker (Autor), Andrea L. Gropman (Autor)
• Format: Książka
• Wydane: MDPI AG, 2016-11-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency (OTCD). OTCD results in impairment to excrete nit...