Citrin deficiency and current treatment concepts

Author:

Saheki Takeyori,Inoue Kanako,Tushima Anmi,Mutoh Kozo,Kobayashi Keiko

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference46 articles.

1. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD);Saheki;J. Hum. Genet.,2002

2. K. Kobayashi, T. Saheki, Citrin deficiency, in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997–2008. Available at http://www.genetests.org.

3. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999

4. Citrin deficiency, a perplexing global disorder;Dimmock;Mol. Genet. Metab.,2009

5. Molecular cloning of aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain;del Arco;J. Biol. Chem.,1998

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