Häberle J - Search Results

1

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J. Balmer C, et al. Among authors: haberle j. Hum Mutat. 2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25. Hum Mutat. 2014. PMID: 24166829

2

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

3

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.

4

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

Engel K, Nuoffer JM, Mühlhausen C, Klaus V, Largiadèr CR, Tsiakas K, Santer R, Wermuth B, Häberle J. Engel K, et al. Among authors: haberle j. Mol Genet Metab. 2008 Jul;94(3):292-7. doi: 10.1016/j.ymgme.2008.03.009. Epub 2008 Apr 25. Mol Genet Metab. 2008. PMID: 18440262

5

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Engel K, Höhne W, Häberle J. Engel K, et al. Among authors: haberle j. Hum Mutat. 2009 Mar;30(3):300-7. doi: 10.1002/humu.20847. Hum Mutat. 2009. PMID: 19006241 Review.

6

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S; Urea Cycle Disorders Consortium; Lichtarge O, Rubio V, Wong LJ, Summar M. Häberle J, et al. Hum Mutat. 2011 Jun;32(6):579-89. doi: 10.1002/humu.21406. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21120950 Free PMC article.

7

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.

8

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Rüegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann RH, Lotz-Havla A, Möslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Häberle J. Rüegger CM, et al. Among authors: haberle j. J Inherit Metab Dis. 2014 Jan;37(1):21-30. doi: 10.1007/s10545-013-9624-0. Epub 2013 Jun 19. J Inherit Metab Dis. 2014. PMID: 23780642 Free PMC article.

9

The incidence of urea cycle disorders.

Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/. Summar ML, et al. Among authors: haberle j. Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18. Mol Genet Metab. 2013. PMID: 23972786 Free PMC article.

10

Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.

Hu L, Pandey AV, Eggimann S, Rüfenacht V, Möslinger D, Nuoffer JM, Häberle J. Hu L, et al. Among authors: haberle j. J Biol Chem. 2013 Nov 29;288(48):34599-611. doi: 10.1074/jbc.M113.503128. Epub 2013 Oct 17. J Biol Chem. 2013. PMID: 24136197 Free PMC article.

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