✦ LIBER ✦

Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency

✍ Scribed by Henriëtte L.J.M.van Laack; Wim Ruitenbeek; J.M.Frans Trijbels; Rob C.A. Sengers; Fons J.M. Gabreëls; Antoon J.M. Janssen; Christine M.C. Kerkhof

Book ID: 115826255
Publisher: Elsevier Science
Year: 1988
Tongue: English
Weight: 612 KB
Volume: 171
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(88)90296-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of the mutations in thr

Characterization of the mutations in three patients with pyruvate dehydrogenase E1α deficiency

✍ L. L. Hansen; G. K. Brown; D. M. Kirby; H. -H. M. Dahl 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 924 KB

Mutation analysis of the pyruvate dehydr

Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

✍ Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; Cécile Marsac; B 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 598 KB

Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E,a gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polymerase chain reaction amplification of the whole cod

Production of an Enzymatically Active E1

Production of an Enzymatically Active E1 Component of Human Pyruvate Dehydrogenase Complex in Escherichia Coli: Supporting Role of E1β Subunit in E1 Activity

✍ J.J. Jeng; T.L. Huh; B.J. Song 📂 Article 📅 1994 🏛 Elsevier Science 🌐 English ⚖ 331 KB

Mutation of E1α gene in a female patient

Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein

✍ M. Ito; A. H. M. M. Huq; E. Naito; T. Saijo; E. Takeda; Y. Kuroda 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 885 KB

Mutations of the E1β subunit gene (PDHB)

Mutations of the E1β subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

✍ K. Okajima; L.G. Korotchkina; C. Prasad; T. Rupar; J.A. Phillips III; C. Ficicio 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 910 KB

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