Results for &quot;&quot;Amino-Acid N-Acetyltransferase&quot;&quot;[mesh_terms]

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature.

Rani H Singh, Aileen Kenneson

Orphanet journal of rare diseases 2021;15(1):279

Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

A Cartagena, A N Prasad, C A Rupar, M Strong, M Tuchman, N Ah Mew, C Prasad

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2013;40(1):3-9

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Giancarlo la Marca, Amelia Morrone, Maria Alice Donati, Silvia Funghini, Elisabetta Pasquini, Francesca Pochiero, Paolo Prontera, Paolo Calabresi, Cinzia Costa, Francesco Ripandelli, Lorenzo Ferri, Antonella Fioravanti, Chiara Chilleri, Catia Cavicchi

International journal of molecular sciences 2018;19(2):345

L-Arginine in the treatment of valproate overdose - five clinical cases.

Verena Schrettl, Norbert Felgenhauer, Christian Rabe, Florian Eyer, Malkanthi Fernando

Clinical toxicology (Philadelphia, Pa.) 2017;55(4):260-266

Human Naa50p (Nat5/San) displays both protein N alpha- and N epsilon-acetyltransferase activity.

Rune Evjenth, Kristine Hole, Odd A Karlsen, Mathias Ziegler, Thomas Arnesen, Johan R Lillehaug

The Journal of biological chemistry 2009;284(45):31122-9

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.

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

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

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

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

Biochimie 2021;183():89-99

Over-expression of a tomato N-acetyl-L-glutamate synthase gene (SlNAGS1) in Arabidopsis thaliana results in high ornithine levels and increased tolerance in salt and drought stresses.

Mary S Kalamaki, Dimitris Alexandrou, Diamanto Lazari, Georgios Merkouropoulos, Vasileios Fotopoulos, Irene Pateraki, Alexandros Aggelis, Armando Carrillo-López, Maria J Rubio-Cabetas, Angelos K Kanellis

Journal of experimental botany 2009;60(6):1859-71

Inborn Errors of Bile Acid Metabolism.

Kevin E Bove, Kenneth D R Setchell, James E Heubi

Clinics in liver disease 2019;22(4):671-687

Disorders of glutamate metabolism.

C A Stanley, A Kelly

Mental retardation and developmental disabilities research reviews 2002;7(4):287-95

Effects of multiple-dose pegylated interferon alfa-2b on the activity of drug-metabolizing enzymes in persons with chronic hepatitis C.

Samir K Gupta, Karen Kolz, David L Cutler

European journal of clinical pharmacology 2012;67(6):591-9