Koch HG - Search Results

1

Misleading diagnosis of partial N-acetylglutamate synthase deficiency based on enzyme measurement corrected by mutation analysis.

Heckmann M, Wermuth B, Häberle J, Koch HG, Gortner L, Kreuder JG. Heckmann M, et al. Among authors: koch hg. Acta Paediatr. 2005 Jan;94(1):121-4. doi: 10.1111/j.1651-2227.2005.tb01799.x. Acta Paediatr. 2005. PMID: 15858972

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

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

4

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.

5

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

6

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

Rapp B, Häberle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG. Rapp B, et al. Among authors: koch hg. Eur J Pediatr. 2001 May;160(5):283-7. doi: 10.1007/s004310100725. Eur J Pediatr. 2001. PMID: 11388595

7

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

8

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency.

Häberle J, Koch HG. Häberle J, et al. Among authors: koch hg. Hum Mutat. 2003 Jun;21(6):649. doi: 10.1002/humu.10210. Hum Mutat. 2003. PMID: 12754713 No abstract available.

9

[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.

10

[Hyperammonemia: causes, diagnosis and therapy. 2. Symptoms and therapy].

Häberle J, Koch HG. Häberle J, et al. Among authors: koch hg. Dtsch Med Wochenschr. 2004 Jun 18;129(25-26):1430-3. doi: 10.1055/s-2004-826885. Dtsch Med Wochenschr. 2004. PMID: 15213875 Review. German. No abstract available.

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