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Number of items: 17.

Williams, Monique; Burlina, Alberto; Rubert, Laura; Polo, Giulia; Ruijter, George J G; van den Born, Myrthe; Rüfenacht, Véronique; Haskins, Nantaporn; van Zutven, Laura J C M; Tuchman, Mendel; Saris, Jasper J; Häberle, Johannes; Caldovic, Ljubica (2018). N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. Scientific Reports, 8(1):15436.

Bijarnia-Mahay, Sunita; Häberle, Johannes; Jalan, Anil B; Puri, Ratna Dua; Kohli, Sudha; Kudalkar, Ketki; Rüfenacht, Véronique; Gupta, Deepti; Maurya, Deepshikha; Verma, Jyotsna; Shigematsu, Yosuke; Yamaguchi, Seiji; Saxena, Renu; Verma, Ishwar C (2018). Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing. Orphanet Journal of Rare Diseases, 13:174.

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.

van Spronsen, Francjan J; Himmelreich, Nastassja; Rüfenacht, Véronique; Shen, Nan; Vliet, Danique van; Al-Owain, Mohammed; Ramzan, Khushnooda; Alkhalifi, Salwa M; Lunsing, Roelineke J; Heiner-Fokkema, Rebecca M; Rassi, Anahita; Gemperle-Britschgi, Corinne; Hoffmann, Georg F; Blau, Nenad; Thöny, Beat (2018). Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability. Journal of Medical Genetics, 55(4):249-253.

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; 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.

Sancho-Vaello, Enea; Marco-Marín, Clara; Gougeard, Nadine; Fernández-Murga, Leonor; Rüfenacht, Véronique; Mustedanagic, Merima; Rubio, Vicente; Häberle, Johannes (2016). Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, impact of clinical mutations on enzyme functionality, and structural considerations. Human Mutation, 37(7):679-694.

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; 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.

Bijarnia-Mahay, Sunita; Häberle, Johannes; Rüfenacht, Véronique; Shigematsu, Yosuke; Saxena, Renu; Verma, Ishwar C (2015). Citrin deficiency: A treatable cause of acute psychosis in adults. Neurology India, 63(2):220-222.

Stoller, Fabienne; Schlegel, Andrea; Viecelli, Hiu Man; Rüfenacht, Véronique; Cesarovic, Nikola; Viecelli, Claudio; Deplazes, Sereina; Bettschart-Wolfensberger, Regula; Hurter, Karin; Schmierer, Philipp A; Sidler, Xaver; Kron, Philipp; Dutkowski, Philipp; Graf, Rolf; Thöny, Beat; Häberle, Johannes (2015). Hepatocyte transfection in small pigs after weaning by hydrodynamic intraportal injection of naked DNA/minicircle vectors. Human Gene Therapy. Methods, 26(5):181-192.

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.

Balmer, Cécile; Pandey, Amit V; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human Mutation, 35(1):27-35.

Adamsen, Dea; Ramaekers, Vincent; Ho, Horace TB; Britschgi, Corinne; Rüfenacht, Véronique; Meili, David; Bobrowski, Elise; Philippe, Paule; Nava, Caroline; Van Maldergem, Lionel; Bruggmann, Rémy; Walitza, Susanne; Wang, Joanne; Grünblatt, Edna; Thöny, Beat (2014). Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene. Molecular Autism, 5:43.

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.

This list was generated on Mon Jan 21 08:22:35 2019 CET.