Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.

[1]  T. Saheki,et al.  Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. , 2011, International journal of molecular medicine.

[2]  T. Saheki,et al.  Citrin deficiency and current treatment concepts. , 2010, Molecular genetics and metabolism.

[3]  T. Saheki,et al.  Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. , 2009, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

[4]  T. Saheki,et al.  Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. , 2008, Journal of hepatology.

[5]  T. Saheki,et al.  Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate , 2008, Journal of Inherited Metabolic Disease.

[6]  T. Saheki,et al.  Reduced carbohydrate intake in citrin-deficient subjects , 2008, Journal of Inherited Metabolic Disease.

[7]  Keiko Kobayashi,et al.  Citrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin Deficiency* , 2007, Journal of Biological Chemistry.

[8]  T. Kuhara Noninvasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. , 2007, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

[9]  T. Saheki,et al.  Citrin Deficiency: A Novel Cause of Failure to Thrive That Responds to a High-Protein, Low-Carbohydrate Diet , 2007, Pediatrics.

[10]  T. Saheki,et al.  Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) , 2007, Journal of Inherited Metabolic Disease.

[11]  M. Tomita,et al.  Differential Metabolomics Reveals Ophthalmic Acid as an Oxidative Stress Biomarker Indicating Hepatic Glutathione Consumption* , 2006, Journal of Biological Chemistry.

[12]  L. Tsui,et al.  Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. , 2006, Journal of hepatology.

[13]  W. Hwu,et al.  Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma. , 2006, Journal of the Formosan Medical Association = Taiwan yi zhi.

[14]  T. Saheki,et al.  Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier. , 2005, Hepatology research : the official journal of the Japan Society of Hepatology.

[15]  T. Saheki,et al.  Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood , 2005, European Journal of Pediatrics.

[16]  T. Saheki,et al.  Chronic pancreatitis associated with adult-onset type II citrullinemia: clinical and pathologic findings. , 2004, Annals of internal medicine.

[17]  L. Tsui,et al.  Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail To Display Hallmarks of Adult-Onset Type II Citrullinemia , 2004, Molecular and Cellular Biology.

[18]  D. Rabier,et al.  Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria , 2002, Journal of Inherited Metabolic Disease.

[19]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[20]  S. Kawasaki,et al.  Hepatocellular carcinoma in a case of adult-onset type II citrullinemia. , 2003, Internal medicine.

[21]  T. Saheki,et al.  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. , 2003, Hepatology research : the official journal of the Japan Society of Hepatology.

[22]  Keiko Kobayashi,et al.  Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) , 2002, Journal of Human Genetics.

[23]  T. Saheki,et al.  Expression of three mitochondrial solute carriers, citrin, aralar1 and ornithine transporter, in relation to urea cycle in mice. , 2002, Biochimica et biophysica acta.

[24]  T. Saheki,et al.  Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria , 2001, The EMBO journal.

[25]  T. Kuhara Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry. , 2001, Journal of chromatography. B, Biomedical sciences and applications.

[26]  T. Saheki,et al.  Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. , 2001, The Journal of pediatrics.

[27]  T. Saheki,et al.  Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. , 2001, The Journal of pediatrics.

[28]  T. Saheki,et al.  Neonatal presentation of adult-onset type II citrullinemia , 2001, Human Genetics.

[29]  R. Santer,et al.  Disorders of Fructose Metabolism , 2000 .

[30]  S. Scherer,et al.  The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein , 1999, Nature Genetics.

[31]  H. Kasai,et al.  Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion. , 1999, Science.

[32]  P. Hušek,et al.  Chloroformates in gas chromatography as general purpose derivatizing agents. , 1998, Journal of chromatography. B, Biomedical sciences and applications.

[33]  J. Satrústegui,et al.  Molecular Cloning of Aralar, a New Member of the Mitochondrial Carrier Superfamily That Binds Calcium and Is Present in Human Muscle and Brain* , 1998, The Journal of Biological Chemistry.

[34]  T. Crenshaw,et al.  Lysine-alpha-ketoglutarate reductase and saccharopine dehydrogenase are located only in the mitochondrial matrix in rat liver. , 1994, The Journal of nutrition.

[35]  D. Sadava,et al.  Development of enzymes of glycerol metabolism in human fetal liver. , 1987, Biology of the neonate.

[36]  J. Illingworth Methods of enzymatic analysis: Third edition: Editor-in-Chief: Hans Ulrich Bergmeyer. Verlag Chemie, 1983 (vols I–III), 1984 (vols IV & V) DM258 each volume or DM2240 vols I–X inclusive , 1985 .

[37]  J. Williamson,et al.  Interrelationships between gluconeogenesis and ureogenesis in isolated hepatocytes. , 1978, The Journal of biological chemistry.

[38]  H. Krebs,et al.  Generation of extramitochondrial reducing power in gluconeogenesis. , 1967, The Biochemical journal.

[39]  H. Bergmeyer Methods of Enzymatic Analysis , 2019 .