Häberle J - Search Results

1

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.

Engel K, Vuissoz JM, Eggimann S, Groux M, Berning C, Hu L, Klaus V, Moeslinger D, Mercimek-Mahmutoglu S, Stöckler S, Wermuth B, Häberle J, Nuoffer JM. Engel K, et al. Among authors: haberle j. J Inherit Metab Dis. 2012 Jan;35(1):133-40. doi: 10.1007/s10545-011-9357-x. Epub 2011 Jun 11. J Inherit Metab Dis. 2012. PMID: 21667091 Free article.

2

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: haberle j. Eur J Pediatr. 2001 May;160(5):283-7. doi: 10.1007/s004310100725. Eur J Pediatr. 2001. PMID: 11388595

3

Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene.

Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG. Linnebank M, et al. Among authors: haberle j. Hum Genet. 2002 Oct;111(4-5):350-9. doi: 10.1007/s00439-002-0793-4. Epub 2002 Aug 14. Hum Genet. 2002. PMID: 12384776

4

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. Hum Mutat. 2003 Apr;21(4):444. doi: 10.1002/humu.9118. Hum Mutat. 2003. PMID: 12655559

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. J Inherit Metab Dis. 2003;26(6):601-5. doi: 10.1023/a:1025912417548. J Inherit Metab Dis. 2003. PMID: 14605506

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. Mol Genet Metab. 2003 Nov;80(3):302-6. doi: 10.1016/j.ymgme.2003.08.002. Mol Genet Metab. 2003. PMID: 14680976

7

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: haberle j. Acta Paediatr. 2005 Jan;94(1):121-4. doi: 10.1111/j.1651-2227.2005.tb01799.x. Acta Paediatr. 2005. PMID: 15858972

8

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: haberle j. 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.

9

Neonatal hyperammonemia: the N-carbamoyl-L-glutamic acid test.

Guffon N, Schiff M, Cheillan D, Wermuth B, Häberle J, Vianey-Saban C. Guffon N, et al. Among authors: haberle j. J Pediatr. 2005 Aug;147(2):260-2. doi: 10.1016/j.jpeds.2005.04.059. J Pediatr. 2005. PMID: 16126063

10

Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia.

Kleijer WJ, Garritsen VH, van der Sterre ML, Berning C, Häberle J, Huijmans JG. Kleijer WJ, et al. Among authors: haberle j. Prenat Diagn. 2006 Mar;26(3):242-7. doi: 10.1002/pd.1390. Prenat Diagn. 2006. PMID: 16475226

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