نتایج جستجو برای: citrullinemia

تعداد نتایج: 234  

Journal: :Biological & pharmaceutical bulletin 2002
Shigeru Honda Koujirou Yamamoto Masayuki Sekizuka Yasuo Oshima Kazumi Nagai Gen-ichi Hashimoto Hiroaki Kaneko Takeshi Tomomasa Yuko Konno Ryuya Horiuchi

In order to treat a hyperammonemic patient with adult-onset type-II citrullinemia (CTLN2), sodium phenylacetate powder was prepared from chemical reagent grade phenylacetic acid in Gunma University Hospital. After purification by recrystalization, phenylacetic acid was neutralized with sodium carbonate and dried at 70 degrees C under reduced pressure. A solution of the prepared powder produced ...

2014
Kiyoshi Hayasaka Chikahiko Numakura Kentaro Toyota Satoru Kakizaki Hisayoshi Watanabe Hiroaki Haga Hiroshi Takahashi Yoshimi Takahashi Mieko Kaneko Mitsunori Yamakawa Hiroyuki Nunoi Takeo Kato Yoshiyuki Ueno Masatomo Mori

BACKGROUND Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, small numbers of adults with citrin deficiency develop hyperammonemic encephalopathy, adult-onset type II citrullinemia (...

2004
MARTIN MARKL

We show that there exists a Lie a bracket on the cohomology of any type of (bi)algebras over an operad or a prop, induced by an L∞-structure on the defining cochain complex, such that the associated L∞-master equation captures deformations. This in particular implies the existence of a Lie bracket on the Gerstenhaber-Schack cohomology [7] of a bialgebra that extends the classical intrinsic brac...

Journal: :Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 2014

Journal: :Journal of Nutritional Science and Vitaminology 2011

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