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Number of items: 6.

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.

Díez-Fernández, Carmen; Gallego, José; Häberle, Johannes; Cervera, Javier; Rubio, Vicente (2015). The study of carbamoyl phosphate synthetase 1 deficiency sheds light on the mechanism for switching on/off the urea cycle. Journal of genetics and genomics = Yi chuan xue bao, 42(5):249-60.

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.

Haeberle, Johannes; Rubio, Vicente (2014). Hyperammonemias and related disorders. In: Blau, Nenad; Duran, M; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer Verlag, 47-62.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo Sanjurjo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7:32.

This list was generated on Sun Sep 15 20:52:26 2019 CEST.