Häberle J - Search Results

1

Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L. Häberle J, et al. Hum Mutat. 2021 Dec;42(12):1624-1636. doi: 10.1002/humu.24281. Epub 2021 Sep 24. Hum Mutat. 2021. PMID: 34510628 Free PMC 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. Hum Mutat. 2003 Jun;21(6):593-7. doi: 10.1002/humu.10216. Hum Mutat. 2003. PMID: 12754705

3

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.

4

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.

5

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

6

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.

Hu L, Diez-Fernandez C, Rüfenacht V, Hismi BÖ, Ünal Ö, Soyucen E, Çoker M, Bayraktar BT, Gunduz M, Kiykim E, Olgac A, Pérez-Tur J, Rubio V, Häberle J. Hu L, et al. Among authors: haberle j. Mol Genet Metab. 2014 Dec;113(4):267-73. doi: 10.1016/j.ymgme.2014.09.014. Epub 2014 Oct 7. Mol Genet Metab. 2014. PMID: 25410056

7

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

Laemmle A, Hahn D, Hu L, Rüfenacht V, Gautschi M, Leibundgut K, Nuoffer JM, Häberle J. Laemmle A, et al. Among authors: haberle j. Mol Genet Metab. 2015 Mar;114(3):438-44. doi: 10.1016/j.ymgme.2015.01.002. Epub 2015 Jan 24. Mol Genet Metab. 2015. PMID: 25639153

8

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Hu L, Pandey AV, Balmer C, Eggimann S, Rüfenacht V, Nuoffer JM, Häberle J. Hu L, et al. Among authors: haberle j. J Inherit Metab Dis. 2015 Sep;38(5):815-27. doi: 10.1007/s10545-014-9807-3. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778938 Free article.

9

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.

Rivera-Barahona A, Sánchez-Alcudia R, Viecelli HM, Rüfenacht V, Pérez B, Ugarte M, Häberle J, Thöny B, Desviat LR. Rivera-Barahona A, et al. Among authors: haberle j. PLoS One. 2015 Apr 8;10(4):e0122966. doi: 10.1371/journal.pone.0122966. eCollection 2015. PLoS One. 2015. PMID: 25853564 Free PMC article.

10

Citrin deficiency: A treatable cause of acute psychosis in adults.

Bijarnia-Mahay S, Häberle J, Rüfenacht V, Shigematsu Y, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: haberle j. Neurol India. 2015 Mar-Apr;63(2):220-2. doi: 10.4103/0028-3886.156285. Neurol India. 2015. PMID: 25947987 Free article.

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