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Number of items: 7.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Gemperle, Corinne; Fingerhut, Ralph; Häberle, Johannes (2018). Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Human Mutation, 39(8):1029-1050.

Hediger, Nina; Landolt, Markus A; Diez-Fernandez, Carmen; Huemer, Martina; Häberle, Johannes (2018). The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):689-698.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Häberle, Johannes (2017). Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Human Mutation, 38(5):471-484.

Diez-Fernandez, Carmen; Häberle, Johannes (2017). Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. Expert Opinion on Therapeutic Targets, 21(4):391-399.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in Medicine, 18(10):991-1000.

Diez-Fernandez, Carmen; Wellauer, Olivia; Gemperle, Corinne; Rüfenacht, Véronique; Fingerhut, Ralph; Häberle, Johannes (2016). Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. Journal of Medical Genetics, 53(10):710-719.

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.

This list was generated on Fri Jan 18 17:40:16 2019 CET.