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Results for

""Carbamoyl-Phosphate Synthase (Ammonia)""[mesh_terms]

6 Results

Searching titles within these results

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Carolyn Ellaway, Georg F Vogel, Denise Aldrian, Daniela Karall, Sabine Scholl-Bürgi, Karolina M Stepien, Sarah C Grünert, Allan M Lund, Thomas Müller, Thomas Zöggeler, Mari Mori, Stefan Schneeberger, Tomas Honzik, Patrick McKiernan, Fuad Al Mutairi, Yılmaz Yıldız, Birgit Waldner, Areeg H El-Gharbawy, Jerard Vockley, Yuval E Landau, Anne Mei-Kwun Kwok, Silvie Kelifova, Rupert Oberhuber

Journal of inherited metabolic disease 2024;47(2):220-229

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CPS1 T1405N polymorphism, HDL cholesterol, homocysteine and renal function are risk factors of VPA induced hyperammonemia among epilepsy patients.

Miaoran Zhang, Lanlan Chen, Qiuxiang Tian, Deyu Chen, Xue Gao, Hongqun Yang, Haitao Li, Chengnan Li, Yulin Li, Jianping Wen, Xin Tian, Peng Chen

Epilepsy research 2020;154():139-143

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Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.

Nadine Gougeard, M Leonor Fernández-Murga, Vicente Rubio, Clara Marco-Marín, Johannes Häberle, Enea Sancho-Vaello, Borja Martínez-Sinisterra, Badr Loukili-Hassani

Journal of inherited metabolic disease 2024;47(6):1194-1212

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Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

Johannes Häberle, D Sean Froese, Ljubica Caldovic, Carmen Diez-Fernandez, Corinne Gemperle, Véronique Rüfenacht, Georgios Makris, Matthias Lauber

Biochimie 2021;183():89-99

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Channeling of substrates and intermediates in enzyme-catalyzed reactions.

H M Holden, F M Raushel, X Huang

Annual review of biochemistry 2002;70():149-80

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Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance.

Alice Matone, Marie-Pier Scott-Boyer, Jerome Carayol, Parastoo Fazelzadeh, Gregory Lefebvre, Armand Valsesia, Celine Charon, Jacques Vervoort, Arne Astrup, Wim H M Saris, Melissa Morine, Jörg Hager

PloS one 2016;11(3):e0150495

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Results: 1 – 6 / 6

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Results for ""Carbamoyl-Phosphate Synthase (Ammonia)""[mesh_terms]

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

CPS1 T1405N polymorphism, HDL cholesterol, homocysteine and renal function are risk factors of VPA induced hyperammonemia among epilepsy patients.

Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

Channeling of substrates and intermediates in enzyme-catalyzed reactions.

Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance.

Results for

""Carbamoyl-Phosphate Synthase (Ammonia)""[mesh_terms]