Rüfenacht V - Search Results

1

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: rufenacht v. 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.

2

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: rufenacht v. Hum Mutat. 2014 Jan;35(1):27-35. doi: 10.1002/humu.22469. Epub 2013 Nov 25. Hum Mutat. 2014. PMID: 24166829

3

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: rufenacht v. 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.

4

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: rufenacht v. Mol Diagn Ther. 2016 Apr;20(2):125-33. doi: 10.1007/s40291-015-0182-z. Mol Diagn Ther. 2016. PMID: 26745957

5

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: rufenacht v. 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

6

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Diez-Fernandez C, Wellauer O, Gemperle C, Rüfenacht V, Fingerhut R, Häberle J. Diez-Fernandez C, et al. Among authors: rufenacht v. J Med Genet. 2016 Oct;53(10):710-9. doi: 10.1136/jmedgenet-2016-103937. Epub 2016 Jun 10. J Med Genet. 2016. PMID: 27287393

7

Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.

Diez-Fernandez C, Rüfenacht V, Häberle J. Diez-Fernandez C, et al. Among authors: rufenacht v. Hum Mutat. 2017 May;38(5):471-484. doi: 10.1002/humu.23184. Epub 2017 Feb 15. Hum Mutat. 2017. PMID: 28111830 Review.

8

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: rufenacht v. 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

9

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Diez-Fernandez C, Rüfenacht V, Gemperle C, Fingerhut R, Häberle J. Diez-Fernandez C, et al. Among authors: rufenacht v. Hum Mutat. 2018 Aug;39(8):1029-1050. doi: 10.1002/humu.23545. Epub 2018 Jun 21. Hum Mutat. 2018. PMID: 29726057

10

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S, Häberle J, Jalan AB, Puri RD, Kohli S, Kudalkar K, Rüfenacht V, Gupta D, Maurya D, Verma J, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: rufenacht v. Orphanet J Rare Dis. 2018 Oct 1;13(1):174. doi: 10.1186/s13023-018-0908-1. Orphanet J Rare Dis. 2018. PMID: 30285816 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

35 results

Search Page

Filters