SLC25A13 Lösungstransporter Familie 25, Lösungstransporter Familie 13 (citrin)

Fiermonte G et al. (2008) An adult with type 2 citrullinemia presenting in Europe.

Kobayashi K et al. (1999) The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

Yasuda T et al. (2000) Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

Ohura T et al. (2001) Neonatal presentation of adult-onset type II citrullinemia.

Tazawa Y et al. (2001) Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.

Tomomasa T et al. (2001) Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.

Saheki T et al. (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD).

Tamamori A et al. (2002) Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation.

Saheki T et al. (2002) Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Sinasac DS et al. (2004) Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

Saheki T et al. (2004) Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

Roesch K et al. (2004) The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.

NCBI article

OMIM.ORG article

Orphanet article