These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. [Detection of CPS1 gene mutation in a neonate with carbamoyl phosphate synthetase I deficiency]. Zhang H; Lang Y; Zhang K; Li X; Liu Y; Gai Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):848-851. PubMed ID: 30512161 [TBL] [Abstract][Full Text] [Related]
3. Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing. Zhang G; Chen Y; Ju H; Bei F; Li J; Wang J; Sun J; Bu J J Clin Lab Anal; 2018 Feb; 32(2):. PubMed ID: 28444906 [TBL] [Abstract][Full Text] [Related]
4. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency. Dong H; Sang T; Ma X; Song J; Chen Z; Zhang H; Jin Y; Li M; Dong D; Sun L; Zhu Z; Zhang Y; Yang Y BMC Pediatr; 2024 Aug; 24(1):539. PubMed ID: 39174957 [TBL] [Abstract][Full Text] [Related]
5. Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing. Choi R; Park HD; Yang M; Ki CS; Lee SY; Kim JW; Song J; Chang YS; Park WS Ann Lab Med; 2017 Jan; 37(1):58-62. PubMed ID: 27834067 [TBL] [Abstract][Full Text] [Related]
7. Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy. Chen X; Yuan L; Sun M; Liu Q; Wu Y J Clin Lab Anal; 2018 Jun; 32(5):e22375. PubMed ID: 29314318 [TBL] [Abstract][Full Text] [Related]
8. 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. Hu L; Diez-Fernandez C; Rüfenacht V; Hismi BÖ; Ünal Ö; Soyucen E; Çoker M; Bayraktar BT; Gunduz M; Kiykim E; Olgac A; Pérez-Tur J; Rubio V; Häberle J Mol Genet Metab; 2014 Dec; 113(4):267-73. PubMed ID: 25410056 [TBL] [Abstract][Full Text] [Related]
9. A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age. Ono H; Suto T; Kinoshita Y; Sakano T; Furue T; Ohta T Brain Dev; 2009 Nov; 31(10):779-81. PubMed ID: 19167850 [TBL] [Abstract][Full Text] [Related]
10. Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening. Zhang Z; Tong F; Chen C; Zhang T; Qian G; Yang X; Huang X; Yang R; Zhao Z Zhejiang Da Xue Xue Bao Yi Xue Ban; 2023 Nov; 52(6):721-726. PubMed ID: 37986659 [TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Finckh U; Kohlschütter A; Schäfer H; Sperhake K; Colombo JP; Gal A Hum Mutat; 1998; 12(3):206-11. PubMed ID: 9711878 [TBL] [Abstract][Full Text] [Related]
12. Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A Gene; 2012 Feb; 493(2):228-34. PubMed ID: 22173106 [TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review. Wang S; Chen J; Zhu X; Huang T; Xu H; Ying G; Qian H; Lin W; Tung Y; Khan KU; Guo H; Zheng G; Lu H; Zhang G BMC Med Genomics; 2023 Jun; 16(1):145. PubMed ID: 37365635 [TBL] [Abstract][Full Text] [Related]
14. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Rokicki D; Pajdowska M; Trubicka J; Thong MK; Ciara E; Piekutowska-Abramczuk D; Pronicki M; Sikora R; Haidar R; Ołtarzewski M; Jabłońska E; Muthukumarasamy P; Sthaneswar P; Gan CS; Krajewska-Walasek M; Carrozzo R; Verrigni D; Semeraro M; Rizzo C; Taurisano R; Alhaddad B; Kovacs-Nagy R; Haack TB; Dionisi-Vici C; Pronicka E; Wortmann SB Clin Chim Acta; 2017 Aug; 471():95-100. PubMed ID: 28526534 [TBL] [Abstract][Full Text] [Related]
15. Molecular characterization of CPS1 deletions by array CGH. Wang J; Shchelochkov OA; Zhan H; Li F; Chen LC; Brundage EK; Pursley AN; Schmitt ES; Häberle J; Wong LJ Mol Genet Metab; 2011 Jan; 102(1):103-6. PubMed ID: 20855223 [TBL] [Abstract][Full Text] [Related]
17. Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. Kurokawa K; Yorifuji T; Kawai M; Momoi T; Nagasaka H; Takayanagi M; Kobayashi K; Yoshino M; Kosho T; Adachi M; Otsuka H; Yamamoto S; Murata T; Suenaga A; Ishii T; Terada K; Shimura N; Kiwaki K; Shintaku H; Yamakawa M; Nakabayashi H; Wakutani Y; Nakahata T J Hum Genet; 2007; 52(4):349-354. PubMed ID: 17310273 [TBL] [Abstract][Full Text] [Related]
18. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Aoshima T; Kajita M; Sekido Y; Kikuchi S; Yasuda I; Saheki T; Watanabe K; Shimokata K; Niwa T Hum Hered; 2001; 52(2):99-101. PubMed ID: 11474210 [No Abstract] [Full Text] [Related]
19. Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. Diez-Fernandez C; Martínez AI; Pekkala S; Barcelona B; Pérez-Arellano I; Guadalajara AM; Summar M; Cervera J; Rubio V Hum Mutat; 2013 Aug; 34(8):1149-59. PubMed ID: 23649895 [TBL] [Abstract][Full Text] [Related]
20. Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report. Yang X; Shi J; Lei H; Xia B; Mu D Medicine (Baltimore); 2017 Jun; 96(26):e7365. PubMed ID: 28658158 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]