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Select item 96342481.

Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency

Ruimiao Bai, ALing He, Jinzhen Guo, Zhankui Li, Xiping Yu, JunAn Zeng, Yang Mi, Lin Wang, Jingjing Zhang, Dong Yang

Front Neurosci. 2022; 16: 1025572. Published online 2022 Oct 21. doi: 10.3389/fnins.2022.1025572

PMCID:: PMC9634248

Article PDF–5.3M

Select item 94586102.

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill

JIMD Rep. 2022 Sep; 63(5): 420–424. Published online 2022 Jul 22. doi: 10.1002/jmd2.12318

PMCID:: PMC9458610

Article PDF–644K

Select item 86047553.

Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Johannes Häberle, Marvin B. Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki, Estela Rubio-Gozalbo, Mendel Tuchman, Nicola Longo, Mark Yandell, Ashley Andrews, Nicholas AhMew, Ljubica Caldovic

Hum Mutat. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Hum Mutat. 2021 Dec; 42(12): 1624–1636. Published online 2021 Sep 24. doi: 10.1002/humu.24281

PMCID:: PMC8604755

Article PDF–842K

Select item 79732394.

Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy

Sarah Al-Qattan, Caroline Malcolmson, Saadet Mercimek-Andrews

Mol Genet Metab Rep. 2021 Jun; 27: 100741. Published online 2021 Mar 13. doi: 10.1016/j.ymgmr.2021.100741

PMCID:: PMC7973239

Article PDF–854K

Select item 78784895.

Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase

P. Sonaimuthu, E. Senkevitch, N. Haskins, P. Uapinyoying, M. McNutt, H. Morizono, M. Tuchman, L. Caldovic

Sci Rep. 2021; 11: 3580. Published online 2021 Feb 11. doi: 10.1038/s41598-021-82994-8

PMCID:: PMC7878489

Article PDF–2.5M

Select item 77121496.

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt, II

Int J Neonatal Screen. 2020 Dec; 6(4): 77. Published online 2020 Oct 8. doi: 10.3390/ijns6040077

PMCID:: PMC7712149

Article PDF–540K

Select item 75459007.

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

Aileen Kenneson, Rani H. Singh

Orphanet J Rare Dis. 2020; 15: 279. Published online 2020 Oct 9. doi: 10.1186/s13023-020-01560-z

PMCID:: PMC7545900

Article PDF–897K

Select item 70526878.

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing

Jasmine Isler, Véronique Rüfenacht, Corinne Gemperle, Gabriella Allegri, Johannes Häberle

JIMD Rep. 2020 Mar; 52(1): 28–34. Published online 2020 Jan 9. doi: 10.1002/jmd2.12091

PMCID:: PMC7052687

Article PDF–999K

Select item 69947139.

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family

Katell Peoc'h, Léna Damaj, Romain Pelletier, Charles Lefèvre, Christèle Dubourg, Marie-Christine Denis, Claude Bendavid, Sylvie Odent, Caroline Moreau

Mol Genet Metab Rep. 2020 Mar; 22: 100558. Published online 2020 Jan 24. doi: 10.1016/j.ymgmr.2019.100558

PMCID:: PMC6994713

Article PDF–259K

Select item 660697910.

N‐carbamoylglutamate‐responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects

Sufin Yap, Nadine Gougeard, Anthony R. Hart, Belén Barcelona, Vicente Rubio

JIMD Rep. 2019 Jul; 48(1): 36–44. Published online 2019 May 2. doi: 10.1002/jmd2.12034

PMCID:: PMC6606979

Article PDF–2.9M

Select item 656337711.

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial

Marwan Nashabat, Abdulrahman Obaid, Fuad Al Mutairi, Mohammed Saleh, Mohammed Elamin, Hind Ahmed, Faroug Ababneh, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Majed Aljeraisy, Mohamed A. Hussein, Ali Alasmari, Majid Alfadhel

BMC Pediatr. 2019; 19: 195. Published online 2019 Jun 13. doi: 10.1186/s12887-019-1571-y

PMCID:: PMC6563377

Article PDF–828K

Select item 623563512.

Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report

Yasar Sattar, Saad Wasiq, Waqas Yasin, Ali M Khan, Mahwish Adnan, Shristi Shrestha, Nirav B Patel, Sharaad Latchana

Cureus. 2018 Sep; 10(9): e3292. Published online 2018 Sep 12. doi: 10.7759/cureus.3292

PMCID:: PMC6235635

Article PDF–613K

Select item 619412113.

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

Monique Williams, Alberto Burlina, Laura Rubert, Giulia Polo, George J. G. Ruijter, Myrthe van den Born, Véronique Rüfenacht, Nantaporn Haskins, Laura J. C. M. van Zutven, Mendel Tuchman, Jasper J. Saris, Johannes Häberle, Ljubica Caldovic

Sci Rep. 2018; 8: 15436. Published online 2018 Oct 18. doi: 10.1038/s41598-018-33457-0

PMCID:: PMC6194121

Article PDF–1.2M

Select item 605448414.

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders

Cristel C. Chapel-Crespo, George A. Diaz, Kimihiko Oishi

Expert Rev Endocrinol Metab. Author manuscript; available in PMC 2018 Jul 20.

Published in final edited form as: Expert Rev Endocrinol Metab. 2016; 11(6): 467–473. Published online 2016 Sep 28. doi: 10.1080/17446651.2016.1239526

PMCID:: PMC6054484

Article PDF–129K

Select item 585556715.

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

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

Int J Mol Sci. 2018 Feb; 19(2): 345. Published online 2018 Jan 24. doi: 10.3390/ijms19020345

PMCID:: PMC5855567

Article PDF–1.7M

Select item 574005116.

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency

Hallvard Reigstad, Berit Woldseth, Johannes Häberle

JIMD Rep. 2017; 37: 45–47. Published online 2017 Mar 9. doi: 10.1007/8904_2017_13

PMCID:: PMC5740051

Article PDF–95K

Select item 555423317.

TNFα induced up-regulation of Na⁺,K⁺,2Cl⁻ cotransporter NKCC1 in hepatic ammonia clearance and cerebral ammonia toxicity

Vitaly I. Pozdeev, Elisabeth Lang, Boris Görg, Hans J. Bidmon, Prashant V. Shinde, Gerald Kircheis, Diran Herebian, Klaus Pfeffer, Florian Lang, Dieter Häussinger, Karl S. Lang, Philipp A. Lang

Sci Rep. 2017; 7: 7938. Published online 2017 Aug 11. doi: 10.1038/s41598-017-07640-8