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Items: 5

1.

Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

Sinasac DS, Moriyama M, Jalil MA, Begum L, Li MX, Iijima M, Horiuchi M, Robinson BH, Kobayashi K, Saheki T, Tsui LC.

Mol Cell Biol. 2004 Jan;24(2):527-36.

2.

Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.

Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, Runswick MJ, Walker JE, Saheki T, Satrústegui J, Palmieri F.

EMBO J. 2001 Sep 17;20(18):5060-9.

3.

Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia.

Lee B, Dennis JA, Healy PJ, Mull B, Pastore L, Yu H, Aguilar-Cordova E, O'Brien W, Reeds P, Beaudet AL.

Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3981-6.

4.

A search for the primary abnormality in adult-onset type II citrullinemia.

Kobayashi K, Shaheen N, Kumashiro R, Tanikawa K, O'Brien WE, Beaudet AL, Saheki T.

Am J Hum Genet. 1993 Nov;53(5):1024-30.

5.

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

Kobayashi K, Shaheen N, Terazono H, Saheki T.

Am J Hum Genet. 1994 Dec;55(6):1103-12. Erratum in: Am J Hum Genet. 1995 Jan;56(1):356.

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