Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0914-x
Reference23 articles.
1. Awrich AE, Stackhouse WJ, Cantrell JE, et al (1975) Hyperdibasicaminoaciduria, hyperammonemia, and growth retardation: treatment with arginine, lysine, and citrulline. J Pediatr 87: 731–738. doi: 10.1016/S0022-3476(75)80296-4 .
2. Dimmock D, Kobayashi K, Iijima M, et al (2007) Citrin deficiency: a novel cause of failure to thrive that responds to a high protein, low carbohydrate diet. Pediatrics 119: e773–e777. doi: 10.1542/peds.2006-1950 .
3. Ikeda S, Yazaki M, Takei Y, et al (2001) Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry 71: 663–670. doi: 10.1136/jnnp.71.5.663 .
4. Imamura Y, Kobayashi K, Shibatou T et al (2003) 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. Hepatol Res 26: 68–72. doi: 10.1016/S1386-6346(02)00331-5 .
5. Ito K, Murata M (2002) Assessment of child obesity with use of body mass index. Himankenkyu 8: 268–272 [in Japanese].
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