𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Pyruvate dehydrogenase E1α subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms

✍ Scribed by Naoko Wada; Toyojiro Matsuishi; Michiko Nonaka; Etsuo Naito; Makoto Yoshino

Book ID
114249013
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
165 KB
Volume
26
Category
Article
ISSN
0387-7604

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A case of pyruvate dehydrogenase E1α sub
A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging
✍ Shunsuke Tamaru; Akihiko Kikuchi; Kimiyo Takagi; Jiu Okuno; Kaori Ishikawa; Shin 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB

## Abstract Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn d