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Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Journal of hepatology, 2008-11, Vol.49 (5), p.810-820

2008

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The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Nature genetics, 1999-06, Vol.22 (2), p.159-163

1999

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Neonatal presentation of adult-onset type II citrullinemia

Human genetics, 2001-02, Vol.108 (2), p.87-90

2001

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Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

European journal of pediatrics, 2002-11, Vol.161 (11), p.609-613

2002

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Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

Journal of hepatology, 2006-05, Vol.44 (5), p.930-938

2006

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Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)

Internal Medicine, 2005, Vol.44(3), pp.188-195

2005

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Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

The Journal of pediatrics, 2001-05, Vol.138 (5), p.741-743

2001

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Hepatocellular carcinoma in a case of adult-onset type II citrullinemia

Internal medicine (Tokyo, 1992), 2003-10, Vol.42 (10), p.978-982

2003

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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, 2003-05, Vol.162 (5), p.317-322

2003

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Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue

Genomics (San Diego, Calif.), 1999-12, Vol.62 (2), p.289-292

1999

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Recovery from Marked Altered Consciousness in a Patient with Adult-onset Type II Citrullinemia Diagnosed by DNA Analysis and Treated with a Living Related Partial Liver Transplantation

Internal Medicine, 2002, Vol.41(7), pp.555-560

2002

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Primary Liver Carcinoma Exhibiting Dual Hepatocellular-Biliary Epithelial Differentiations Associated With Citrin Deficiency: A Case Report

Journal of clinical gastroenterology, 2008-08, Vol.42 (7), p.855-860

2008

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Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

The Journal of pediatrics, 2001-05, Vol.138 (5), p.735-740

2001

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Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis

Journal of hepatology, 2006-01, Vol.44 (1), p.236-239

2006

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Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Human genetics, 2000-12, Vol.107 (6), p.537-545

2000

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Living donor liver transplantation for type II citrullinemia from a heterozygous donor

Hepato-gastroenterology, 2008-11, Vol.55 (88), p.2211

2008

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Increased urinary excretion of argininosuccinate in type II citrullinemia

Clinica chimica acta, 1987-12, Vol.170 (2), p.297-304

1987

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Cirrhosis in an infant heterozygous for classical citrullinaemia

Acta pædiatrica (Oslo), 2005-12, Vol.94 (12), p.1849-1851

2005

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The heterogeneous distribution of argininosuccinate synthetase in the liver of type II citrullinemic patients: its specificity and possible clinical implications

American journal of clinical pathology, 1988-06, Vol.89 (6), p.735-741

1988

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Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels

Journal of the neurological sciences, 2001, Vol.182 (2), p.167-170

2001

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Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation

Transplantation, 1996-12, Vol.62 (11), p.1679

1996

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Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

Human genetics, 1995-10, Vol.96 (4), p.454-463

1995

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

American journal of human genetics, 1993-11, Vol.53 (5), p.1024-1030

1993

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

American journal of human genetics, 1994-12, Vol.55 (6), p.1103-1112

1994

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Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

Annals of clinical biochemistry, 2003-01, Vol.40 (Pt 1), p.102

2003

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Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Neonatal presentation of adult-onset type II citrullinemia

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice

Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy

Hepatocellular carcinoma in a case of adult-onset type II citrullinemia

A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

Genomic Structure of the Adult-Onset Type II Citrullinemia Gene, SLC25A13, and Cloning and Expression of Its Mouse Homologue

Recovery from Marked Altered Consciousness in a Patient with Adult-onset Type II Citrullinemia Diagnosed by DNA Analysis and Treated with a Living Related Partial Liver Transplantation

Primary Liver Carcinoma Exhibiting Dual Hepatocellular-Biliary Epithelial Differentiations Associated With Citrin Deficiency: A Case Report

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Living donor liver transplantation for type II citrullinemia from a heterozygous donor

Increased urinary excretion of argininosuccinate in type II citrullinemia

Cirrhosis in an infant heterozygous for classical citrullinaemia

The heterogeneous distribution of argininosuccinate synthetase in the liver of type II citrullinemic patients: its specificity and possible clinical implications

Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels

Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation

Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia

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

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

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase

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