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Carmen Diez-Fernandez & Johannes Häberle. (2017) Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. Expert Opinion on Therapeutic Targets 21:4, pages 391-399.
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Johannes Häberle & Shawn E McCandless. (2014) Orphan drugs in development for urea cycle disorders: current perspectives. Orphan Drugs: Research and Reviews 4, pages 63-70.
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Y.X. Li, V.R. Moreira, L.S. Wang, Q.L. Liu, P.D. Gao, X.J. Zhang & X. Fu. (2023) N-carbamylglutamate, a promising functional feed additive in swine production: A review. Animal Feed Science and Technology, pages 115719.
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Tala Shalakhti, Yazan O. Al Zu'bi, Ahmed H. Al Sharie, Ahmad K. Abdulraheem, Amjad Al-Salhi, Ahmed N. Barakat & Eyad Altamimi. (2022) The use of carglumic acid in hyperammonemia secondary to bacterial overgrowth in lately diagnosed Hirschsprung disease. Journal of Pediatric Surgery Case Reports 86, pages 102460.
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Ashish Marwaha, Judy Ibrahim, Taylor Rice, Nadia Hamwi, Charles Anthony Rupar, David Cresswell, Chitra Prasad & Andreas Schulze. (2020)
Two cases of carbonic anhydrase
VA
deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome
. JIMD Reports 57:1, pages 9-14.
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Katell Peoc'h, Léna Damaj, Romain Pelletier, Charles Lefèvre, Christèle Dubourg, Marie-Christine Denis, Claude Bendavid, Sylvie Odent & Caroline Moreau. (2020) Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family. Molecular Genetics and Metabolism Reports 22, pages 100558.
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Johannes Häberle, Alberto Burlina, Anupam Chakrapani, Marjorie Dixon, Daniela Karall, Martin Lindner, Hanna Mandel, Diego Martinelli, Guillem Pintos‐Morell, René Santer, Anastasia Skouma, Aude Servais, Galit Tal, Vicente Rubio, Martina Huemer & Carlo Dionisi‐Vici. (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. Journal of Inherited Metabolic Disease 42:6, pages 1192-1230.
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Beibei Yan, Chao Wang, Kaihui Zhang, Haiyan Zhang, Min Gao, Yuqiang Lv, Xiaoying Li, Yi Liu & Zhongtao Gai. (2019) Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature. Frontiers in Genetics 10.
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Johannes Häberle. (2013) Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Archives of Biochemistry and Biophysics 536:2, pages 101-108.
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