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Number of items: 10.

Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit V; Hu, Liyan; Blom, Henk; Nuoffer, Jean-Marc; Häberle, Johannes (2016). Effect of cysteamine on mutant ASL proteins with cysteine for arginine substitutions. Molecular Diagnosis & Therapy, 20(2):125-133.

Hu, Liyan; Ibrahim, Khalid; Stucki, Martin; Frapolli, Michele; Shahbeck, Noora; Chaudhry, Farrukh A; Görg, Boris; Häussinger, Dieter; Penberthy, W Todd; Ben-Omran, Tawfeg; Häberle, Johannes (2015). Secondary NAD(+) deficiency in the inherited defect of glutamine synthetase. Journal of Inherited Metabolic Disease, 38(6):1075-1083.

Hu, Liyan; Pandey, Amit V; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 38(5):815-827.

Laemmle, Alexander; Hahn, Dagmar; Hu, Liyan; Rüfenacht, Véronique; Gautschi, Matthias; Leibundgut, Kurt; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Molecular Genetics and Metabolism, 114(3):438-444.

Hu, Liyan; Diez-Fernandez, Carmen; Rüfenacht, Véronique; Hismi, Burcu Öztürk; Unal, Ozlem; Soyucen, Erdogan; Coker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Pérez-Tur, Jordi; Rubio, Vicente; Häberle, Johannes (2014). 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. Molecular Genetics and Metabolism, 113(4):267-273.

Díez-Fernández, Carmen; Hu, Liyan; Cervera, Javier; Häberle, Johannes; Rubio, Vicente (2014). Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function. Molecular Genetics and Metabolism, 112(2):123-132.

Ghodgaonkar, Medini Manohar; Kehl, Patrick; Ventura, Ilenia; Hu, Liyan; Bignami, Margherita; Jiricny, Josef (2014). Phenotypic characterization of missense polymerase-δ mutations using an inducible protein-replacement system. Nature Communications, 5:4990.

Hu, Liyan; Pandey, Amit V; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of Biological Chemistry, 288(48):34599-34611.

Kretz, Rita; Hu, Liyan; Wettstein, Véronique; Leiteritz, Dana; Häberle, Johannes (2012). Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1. Molecular Genetics and Metabolism, 106(3):375-378.

Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 35(1):133-140.

This list was generated on Sun Sep 22 14:20:15 2019 CEST.