Recovery from Marked Altered Consciousness in a Patient with Adult-onset Type II Citrullinemia Diagnosed by DNA Analysis and Treated with a Living Related Partial Liver Transplantation
スポンサーリンク
概要
- 論文の詳細を見る
A 21-year-old woman was admitted with altered consciousness and hyperammonemia. She was diagnosed as having adult-onset type II citrullinemia (CTLN2) by DNA analysis. The patient had mutations of the SLC25A13 gene, which were compound heterozygotes of 851 del 4 and IVS11+1G>A. CTLN2 has a poor prognosis, in spite of various intensive medications, and we performed a living related partial liver transplantation (LRLT). Over a 2-year follow-up, the patient has been well. CTLN2 can be diagnosed by the DNA analysis and can be treated by LRLT.(Internal Medicine 41: 555-560, 2002)
- 社団法人 日本内科学会の論文
- 2002-07-01
著者
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IWAI Masahide
The Department of Medicine, Nishiwaki Municipal Hospital
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Takashima Yasuhiro
The Department Of Information And Media The University Of Kitakyushu
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Takashima Yasuhiro
The Department Of Electrical And Electronic Engineering Tokyo Institute Of Technology
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Takashima Yasuhiro
The Department Of Internal Medicine Nishiwaki City General Hospital
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Koide Makoto
He Department Of Internal Medicine Nishiwaki City General Hospital
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Fukuda Tsuneo
He Department Of Internal Medicine Nishiwaki City General Hospital
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Iwai Masahide
He Department Of Internal Medicine Nishiwaki City General Hospital
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Miura Masaki
He Department Of Internal Medicine Nishiwaki City General Hospital
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Saheki Takeyori
The Department Of Biochemistry Faculty Of Medicine Kagoshima University
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FUKUNAGA Hideyuki
he Department of Internal Medicine, Nishiwaki City General Hospital
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YONEDA Ryoji
he Department of Internal Medicine, Nishiwaki City General Hospital
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KOBAYASHI Keiko
the Department of Biochemistry, Faculty of Medicine, Kagoshima University
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Yoneda Ryoji
He Department Of Internal Medicine Nishiwaki City General Hospital
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Fukunaga Hideyuki
He Department Of Internal Medicine Nishiwaki City General Hospital
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Kobayashi Keiko
The Department Of Biochemistry Faculty Of Medicine Kagoshima University
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