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Hans Georg Koch Selected Research

N-acetyl glutamate synthetase deficiency

4/2005Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
5/2004Genetic approach to prenatal diagnosis in urea cycle defects.
6/2003Mutation analysis in patients with N-acetylglutamate synthase deficiency.

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Hans Georg Koch Research Topics

Disease

3Citrullinemia
10/2008 - 11/2003
3Homocystinuria
10/2004 - 06/2004
2Hyperammonemia
04/2005 - 06/2003
2Ornithine Carbamoyltransferase Deficiency Disease
05/2004 - 06/2003
1Methylenetetrahydrofolate reductase deficiency
06/2015
1Down Syndrome (Down's Syndrome)
11/2007
1Failure to Thrive
11/2007
1Methylmalonic acidemia
10/2004
1Hyperargininemia
05/2004
1Argininosuccinic Aciduria
05/2004
1Thromboembolism
02/2004
1Cystinosis
09/2002

Drug/Important Bio-Agent (IBA)

3N-acetyl glutamate synthetase deficiencyIBA
04/2005 - 06/2003
2Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
10/2008 - 11/2003
2Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
10/2004 - 06/2004
2HomocysteineIBA
06/2004 - 02/2004
1Folic Acid (Vitamin M)FDA LinkGeneric
06/2015
1Oxidoreductases (Dehydrogenase)IBA
06/2015
15,10-methylenetetrahydrofolic acidIBA
06/2015
1Urea (Carbamide)FDA LinkGeneric
10/2008
1EnzymesIBA
10/2008
1CarbonIBA
11/2007
1cobamamide (adenosylcobalamin)IBA
10/2004
1mecobalamin (methylcobalamin)IBA
10/2004
1Methionine (L-Methionine)FDA Link
10/2004
1Vitamin B 6IBA
10/2004
1Ligases (Synthetase)IBA
05/2004
1CitrullineIBA
11/2003
1Aspartic Acid (Aspartate)FDA Link
11/2003
1Amino Acid Transport System X-AG (Glutamate Transporter)IBA
11/2003
1Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
06/2003
1Cystine (L-Cystine)IBA
09/2002
1Lysosomal Membrane ProteinsIBA
09/2002