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secretory trypsin-inhibitor (10) 10
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analysis (9) 9
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Nature Genetics, ISSN 1061-4036, 06/1999, Volume 22, Issue 2, pp. 159 - 163
Journal Article
Human Mutation, ISSN 1059-7794, 02/2002, Volume 19, Issue 2, pp. 122 - 130
We have recently identified SLC25A13 on chromosome 7q21.3 as the gene responsible for adult‐onset type II citrullinemia (CTLN2) and found seven mutations in... 
NICCD | liver disease | mutation detection | adult‐onset type II citrullinemia | CTLN2 | neonatal intrahepatic cholestasis caused by citrin deficiency | citrin deficiency | multiple DNA diagnosis | Japanese | SLC25A13 | Mutation detection | Multiple DNA diagnosis | Adult-onset type II citrullinemia | Neonatal intrahepatic cholestasis caused by citrin deficiency | Liver disease | Citrin deficiency | ORTHOTOPIC LIVER-TRANSPLANTATION | ARGININOSUCCINATE SYNTHETASE | adult-onset type II citrullinemia | CLASSICAL CITRULLINEMIA | MESSENGER-RNA | GENE | UREA CYCLE | GENETICS & HEREDITY | II CITRULLINEMIA | Cholestasis - genetics | Japan - epidemiology | Citrullinemia - diagnosis | Gene Frequency - genetics | Cholestasis - congenital | Cholestasis - complications | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Citrullinemia - epidemiology | Male | DNA Mutational Analysis - methods | Mitochondrial Proteins | Genetic Testing - methods | Mutation, Missense - genetics | Mitochondrial Membrane Transport Proteins | Base Sequence | Hepatitis - genetics | Polymerase Chain Reaction | Female | Infant, Newborn | Citrullinemia - genetics | Cholestasis - diagnosis | Calcium-Binding Proteins - deficiency | Genotype | Mutation - genetics | Hepatitis - congenital | Hepatitis - complications | Hepatitis - diagnosis | Polymorphism, Restriction Fragment Length | Membrane Transport Proteins | Age of Onset | Alleles | Codon, Nonsense - genetics | Calcium-Binding Proteins - genetics | Index Medicus
Journal Article
Journal Article
BBA - Gene Structure and Expression, ISSN 0167-4781, 2002, Volume 1574, Issue 3, pp. 283 - 292
The present report describes the expression profiles of different tissues and developmental changes of mouse aspartate/glutamate carrier (AGC) genes, Slc25a13... 
Aspartate/glutamate carrier | Aralar1 | Ornithine transporter 1 | Slc25a12 | Type II citrullinemia | Slc25a13 | Citrin
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2003, Volume 80, Issue 3, pp. 356 - 359
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2004, Volume 83, Issue 3, pp. 213 - 219
A deficiency of citrin, which is encoded by the gene, causes both adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). We... 
Citrullinemia | Newborn screening | Fatty liver | Neonatal intrahepatic cholestasis | Citrin deficiency | MEDICINE, RESEARCH & EXPERIMENTAL | SLC25A13 MUTATIONS | LIVER-TRANSPLANTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | fatty liver | IDENTIFICATION | neonatal intrahepatic cholestasis | GENE | GENETICS & HEREDITY | citrullinemia | citrin deficiency | II CITRULLINEMIA CTLN2 | newborn screening | Amino Acids - blood | Liver - pathology | Bile Acids and Salts - blood | Humans | Blood Coagulation Factors | Tyrosinemias - pathology | Infant | Male | Hypoglycemia - pathology | Mitochondrial Proteins - genetics | Biliary Atresia - complications | Hypoproteinemia - pathology | Hypoproteinemia - complications | Mitochondrial Membrane Transport Proteins | Organic Anion Transporters - deficiency | DNA Mutational Analysis | Membrane Transport Proteins - genetics | Anemia, Hemolytic - complications | Galactose - blood | Female | Cholestasis, Intrahepatic - complications | Citrullinemia - pathology | Infant, Newborn | Cholestasis, Intrahepatic - genetics | Anemia, Hemolytic - pathology | Cholestasis, Intrahepatic - pathology | Hepatitis - pathology | Calcium-Binding Proteins - deficiency | Citrullinemia - complications | DNA Primers | Vitamins - therapeutic use | Food, Formulated | Tyrosinemias - complications | Hepatitis - complications | Hypoglycemia - complications | Biliary Atresia - parasitology | Cholestasis, Intrahepatic - diet therapy | Index Medicus
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2004, Volume 81, pp. 20 - 26
Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is... 
Urea synthesis | Argininosuccinate synthetase | Adult-onset type II citrullinemia | Malate–aspartate shuttle | Hyperammonemia | Citrullinemia | Intrahepatic cholestasis caused by citrin deficiency | Aspartate glutamate carrier | Citrin | SLC25A13 | Malate-aspartate shuttle | MEDICINE, RESEARCH & EXPERIMENTAL | SLC25A13 MUTATIONS | intrahepatic cholestasis caused by citrin deficiency malate-aspartate shuttle | PROTEIN | citrin | BIOCHEMISTRY & MOLECULAR BIOLOGY | aspartate glutamate carrier | INFANTILE CITRULLINEMIA | IDENTIFICATION | adult-onset type II citrullinemia | RECOVERY | argininosuccinate synthetase | GENE | GENETICS & HEREDITY | citrullinemia | hyperammonemia | PARTIAL LIVER-TRANSPLANTATION | SECRETORY TRYPSIN-INHIBITOR | urea synthesis | PATIENT | Citrullinemia - genetics | Hepatitis - epidemiology | Japan - epidemiology | Citrullinemia - metabolism | Gene Frequency | Humans | Liver - metabolism | Calcium-Binding Proteins - deficiency | Citrullinemia - epidemiology | Male | Mitochondrial Proteins - genetics | Mitochondrial Membrane Transport Proteins | Organic Anion Transporters - deficiency | Citrullinemia - therapy | Membrane Transport Proteins - genetics | Models, Biological | Hepatitis - genetics | Hepatitis - metabolism | Adult | Female | Urea - metabolism | Mutation | Infant, Newborn | Index Medicus
Journal Article
Journal Article
Journal Article
Molecular and cellular biology, ISSN 0270-7306, 01/2004, Volume 24, Issue 2, pp. 527 - 536
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial... 
Index Medicus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 7/2005, Volume 50, Issue 7, pp. 338 - 346
Journal Article