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T Saheki Selected Research

Citrullinemia

12/2001Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels: mutations in the SLC25A13 gene.
11/2001Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation.
9/2001Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.
9/2001High serum pancreatic secretory trypsin inhibitor before onset of type II citrullinemia.
5/2001Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.
2/2001Neonatal presentation of adult-onset type II citrullinemia.
1/2001Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor.
1/2001Citrullinemia type II in a 64-year-old man with fluctuating serum citrulline levels.
1/2001Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin.
12/2000Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia.

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T Saheki Research Topics

Disease

10Citrullinemia
12/2001 - 12/2000
3Fatty Liver
12/2000 - 05/2000
2Neonatal-onset citrullinemia type 2
12/2009 - 09/2009
2Galactosemias (Galactosemia)
09/2009 - 01/2004
2Adult-onset citrullinemia type 2
12/2008 - 01/2004
2Liver Diseases (Liver Disease)
02/2002 - 01/2001
1Cholestasis
12/2009
1Tyrosinemias (Tyrosinemia)
09/2009
1Dyslipidemias (Dyslipidemia)
09/2009
1Intrahepatic Cholestasis
09/2009
1Lethargy
12/2008
1Anorexia
12/2008
1Failure to Thrive
12/2008
1Fatigue
12/2008
1Liver Failure
04/2007
1Hepatic Encephalopathy
11/2001
1Erythropoietic Protoporphyria
07/2001
1Hyperammonemia
12/2000
1Lamellar Ichthyosis (Harlequin Ichthyosis)
11/2000
1Cardiomegaly (Heart Hypertrophy)
05/2000

Drug/Important Bio-Agent (IBA)

6citrinIBA
09/2009 - 12/2000
4CitrullineIBA
12/2009 - 01/2001
4Proteins (Proteins, Gene)FDA Link
09/2009 - 12/2000
3Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
02/2002 - 12/2000
3Carnitine (L-Carnitine)FDA LinkGeneric
12/2000 - 05/2000
2Arginine (L-Arginine)FDA Link
12/2009 - 12/2008
2Threonine (L-Threonine)FDA Link
12/2009 - 12/2008
2Kazal Pancreatic Trypsin InhibitorIBA
12/2008 - 09/2001
1Tyrosine (L-Tyrosine)FDA Link
12/2009
1Methionine (L-Methionine)FDA Link
12/2009
1LDL CholesterolIBA
09/2009
1HDL CholesterolIBA
09/2009
1AlbuminsIBA
09/2009
1Triglycerides (Triacylglycerol)IBA
09/2009
1serum P-component (CIt)IBA
09/2009
1tyrosyl-lysineIBA
09/2009
1CholesterolIBA
09/2009
1AmmoniaIBA
12/2008
1CarbohydratesIBA
12/2008
1Serine (L-Serine)FDA Link
12/2008
1SodiumIBA
12/2008
1Pyruvic Acid (Pyruvate)IBA
12/2008
1UDPglucose 4-Epimerase (UDP Galactose Epimerase)IBA
01/2004
1UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA
01/2004
1Amino AcidsFDA Link
11/2001
1Protein Isoforms (Isoforms)IBA
09/2001
1aspartate-glutamate carrierIBA
09/2001
1Messenger RNA (mRNA)IBA
07/2001
1Ferrochelatase (Heme Synthetase)IBA
07/2001
1Solute Carrier ProteinsIBA
01/2001
1Transcription Factor AP-1 (Transcription Factor AP 1)IBA
12/2000
1EnzymesIBA
12/2000
1GlucocorticoidsIBA
12/2000
1Systemic carnitine deficiencyIBA
12/2000
1Urea (Carbamide)FDA LinkGeneric
12/2000
1transglutaminase 1IBA
11/2000
1TransglutaminasesIBA
11/2000

Therapy/Procedure

4Liver Transplantation
12/2008 - 01/2001
1High-Protein Low-Carbohydrate Diet (Atkins Diet)
12/2008
1Therapeutics
12/2008