Three cases of adult-onset type II citrullinemia treated with different therapies: Efficacy of sodium pyruvate and low-carbohydrate diet
Author:
Affiliation:
1. Division of Gastroenterology; Tohoku University Hospital; Sendai
2. Division of Internal Medicine; Kawasaki Saiwai Clinic; Kawasaki Japan
Publisher
Wiley
Subject
Infectious Diseases,Hepatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/hepr.12170/fullpdf
Reference21 articles.
1. Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation;Ikeda;J Neurol Neurosurg Psychiatry,2001
2. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat Genet,1999
3. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria;Palmieri;EMBO J,2001
4. Citrin deficiency and current treatment concepts;Saheki;Mol Genet Metab,2010
5. Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency;Saheki;J Biol Chem,2007
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2. Successful treatment of adult-onset type II citrullinemia with a low-carbohydrate diet and l-arginine after DNA analysis produced a definitive diagnosis;Clinical Journal of Gastroenterology;2020-01-02
3. Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13;Journal of Pediatric Endocrinology and Metabolism;2019-12-06
4. The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies;Internal Medicine;2019-07-01
5. mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency;Molecular Therapy;2019-07
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