Aspartate glutamate carrier (citrin) deficiency
Authors:
- 1 January 2003
- book chapter
- Published by Springer Nature
- p. 147-160
Abstract
No abstract availableKeywords
This publication has 51 references indexed in Scilit:
- 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
- Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissuesBiochemical Journal, 2000
- Assignment1 of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24Cytogenetic and Genome Research, 1999
- Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemiaHepatology, 1997
- Case report: Recurrent hyperammonaemic encephalopathy due to citrullinaemia in a 52 year old manJournal of Gastroenterology and Hepatology, 1996
- Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult‐onset type II citrullinemiaFEBS Letters, 1995
- Mitochondrial carrier proteinsFEBS Letters, 1994
- The mitochondrial transporter familyCurrent Opinion in Structural Biology, 1992
- Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches1987
- Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in JapanJournal of Inherited Metabolic Disease, 1985