Häberle J - Search Results

1

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Ismail HM, Krishnamoorthy N, Al-Dewik N, Zayed H, Mohamed NA, Giacomo VD, Gupta S, Häberle J, Thöny B, Blom HJ, Kruger WD, Ben-Omran T, Nasrallah GK. Ismail HM, et al. Among authors: haberle j. Hum Mutat. 2019 Feb;40(2):230-240. doi: 10.1002/humu.23682. Epub 2018 Nov 23. Hum Mutat. 2019. PMID: 30408270 Free PMC article.

2

Natural course of glutamine synthetase deficiency in a 3 year old patient.

Häberle J, Shahbeck N, Ibrahim K, Hoffmann GF, Ben-Omran T. Häberle J, et al. Mol Genet Metab. 2011 May;103(1):89-91. doi: 10.1016/j.ymgme.2011.02.001. Epub 2011 Feb 4. Mol Genet Metab. 2011. PMID: 21353613

3

Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.

Häberle J, Shahbeck N, Ibrahim K, Schmitt B, Scheer I, O'Gorman R, Chaudhry FA, Ben-Omran T. Häberle J, et al. Orphanet J Rare Dis. 2012 Jul 25;7:48. doi: 10.1186/1750-1172-7-48. Orphanet J Rare Dis. 2012. PMID: 22830360 Free PMC article.

4

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

5

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.

6

Secondary NAD+ deficiency in the inherited defect of glutamine synthetase.

Hu L, Ibrahim K, Stucki M, Frapolli M, Shahbeck N, Chaudhry FA, Görg B, Häussinger D, Penberthy WT, Ben-Omran T, Häberle J. Hu L, et al. Among authors: haberle j. J Inherit Metab Dis. 2015 Nov;38(6):1075-83. doi: 10.1007/s10545-015-9846-4. Epub 2015 Apr 21. J Inherit Metab Dis. 2015. PMID: 25896882 Free article.

7

Hepatocyte Transfection in Small Pigs After Weaning by Hydrodynamic Intraportal Injection of Naked DNA/Minicircle Vectors.

Stoller F, Schlegel A, Viecelli HM, Rüfenacht V, Cesarovic N, Viecelli C, Deplazes S, Bettschart R, Hurter K, Schmierer P, Sidler X, Kron P, Dutkowski P, Graf R, Thöny B, Häberle J. Stoller F, et al. Among authors: haberle j. Hum Gene Ther Methods. 2015 Oct;26(5):181-92. doi: 10.1089/hgtb.2014.140. Epub 2015 Sep 23. Hum Gene Ther Methods. 2015. PMID: 26398117 Free article.

8

Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions.

Inauen C, Rüfenacht V, Pandey AV, Hu L, Blom H, Nuoffer JM, Häberle J. Inauen C, et al. Among authors: haberle j. Mol Diagn Ther. 2016 Apr;20(2):125-33. doi: 10.1007/s40291-015-0182-z. Mol Diagn Ther. 2016. PMID: 26745957

9

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, Rubio V, Häberle J. Sancho-Vaello E, et al. Among authors: haberle j. Hum Mutat. 2016 Jul;37(7):679-94. doi: 10.1002/humu.22995. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27037498

10

Guidelines for acute management of hyperammonemia in the Middle East region.

Alfadhel M, Mutairi FA, Makhseed N, Jasmi FA, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T. Alfadhel M, et al. Among authors: haberle j. Ther Clin Risk Manag. 2016 Mar 31;12:479-87. doi: 10.2147/TCRM.S93144. eCollection 2016. Ther Clin Risk Manag. 2016. PMID: 27099506 Free PMC article.

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