Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood

This publication has 6 references indexed in Scilit:

• 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
  Hepatology Research, 2003
• A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency
  European Journal of Pediatrics, 2003
• Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
  Journal of Human Genetics, 2002
• Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
  Human Mutation, 2002
• Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
  The Journal of Pediatrics, 2001
• The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
  Nature Genetics, 1999