A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine-Reference-Cited by-同舟云学术

A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine

Published:2013-08 Issue:8 Volume:115 Page:1542-1545
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Yazaki Masahide,Kinoshita Michiaki,Ogawa Shinji,Fujimi Satoshi,Matsushima Akira,Hineno Akiyo,Tazawa Ko-ichi,Fukushima Kazuhiro,Kimura Ryo,Yanagida Makoto,Matsunaga Hidenori,Saheki Takeyori,Ikeda Shu-ichi

Funder

Ministry of Health

Labor and Welfare of Japan

Promotion Project of Education

Research, and Medical Care from Shinshu University Hospital

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference5 articles.

1. The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein;Kobayashi;Nature Genetics,1999

2. Citrin deficiency and current treatment concepts;Saheki;Molecular Genetics and Metabolism,2010

3. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia;Yasuda;Human Genetics,2000

4. Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate;Mutoh;Journal of Inherited Metabolic Disease,2008

5. Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease;Imamura;Hepatology Research,2003

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