Koch HG - Search Results

1

Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.

Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG. Schmidt E, et al. Among authors: koch hg. Biochim Biophys Acta. 2005 Apr 15;1740(1):54-9. doi: 10.1016/j.bbadis.2005.02.006. Epub 2005 Feb 24. Biochim Biophys Acta. 2005. PMID: 15878741 Free article.

2

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG. Häberle J, et al. Among authors: koch hg. Hum Mutat. 2003 Jun;21(6):593-7. doi: 10.1002/humu.10216. Hum Mutat. 2003. PMID: 12754705

3

Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

Häberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, Koch HG. Häberle J, et al. Among authors: koch hg. Hum Mutat. 2003 Apr;21(4):444. doi: 10.1002/humu.9118. Hum Mutat. 2003. PMID: 12655559

4

Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.

Häberle J, Denecke J, Schmidt E, Koch HG. Häberle J, et al. Among authors: koch hg. J Inherit Metab Dis. 2003;26(6):601-5. doi: 10.1023/a:1025912417548. J Inherit Metab Dis. 2003. PMID: 14605506

5

Congenital glutamine deficiency with glutamine synthetase mutations.

Häberle J, Görg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Höhne W, Schliess F, Häussinger D, Koch HG. Häberle J, et al. Among authors: koch hg. N Engl J Med. 2005 Nov 3;353(18):1926-33. doi: 10.1056/NEJMoa050456. N Engl J Med. 2005. PMID: 16267323 Free article.

6

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG. Häberle J, et al. Among authors: koch hg. Mol Genet Metab. 2003 Nov;80(3):302-6. doi: 10.1016/j.ymgme.2003.08.002. Mol Genet Metab. 2003. PMID: 14680976

7

Genetic approach to prenatal diagnosis in urea cycle defects.

Häberle J, Koch HG. Häberle J, et al. Among authors: koch hg. Prenat Diagn. 2004 May;24(5):378-83. doi: 10.1002/pd.884. Prenat Diagn. 2004. PMID: 15164414

8

Investigation of citrullinemia type I variants by in vitro expression studies.

Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Höhne W, Koch HG, Rolinski B, Gempel K, Häberle J. Berning C, et al. Among authors: koch hg. Hum Mutat. 2008 Oct;29(10):1222-7. doi: 10.1002/humu.20784. Hum Mutat. 2008. PMID: 18473344

9

Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia.

Häberle J, Pauli S, Linnebank M, Kleijer WJ, Bakker HD, Wanders RJ, Harms E, Koch HG. Häberle J, et al. Among authors: koch hg. Hum Genet. 2002 Apr;110(4):327-33. doi: 10.1007/s00439-002-0686-6. Epub 2002 Mar 1. Hum Genet. 2002. PMID: 11941481

10

[Hyperammonemia: pathogenesis, diagnosis and therapy].

Häberle J, Koch HG. Häberle J, et al. Among authors: koch hg. Dtsch Med Wochenschr. 2004 Jun 11;129(24):1381-4. doi: 10.1055/s-2004-826878. Dtsch Med Wochenschr. 2004. PMID: 15188091 German. No abstract available.

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