253 related articles for article (PubMed ID: 33272297)
1. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D; Han F; Qiu W; Zhang H; Ye J; Liang L; Wang Y; Ji W; Zhan X; Gu X; Han L
Orphanet J Rare Dis; 2020 Dec; 15(1):340. PubMed ID: 33272297
[TBL] [Abstract][Full Text] [Related]
2. Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
Shao Y; Jiang M; Lin Y; Mei H; Zhang W; Cai Y; Su X; Hu H; Li X; Liu L
Clin Genet; 2017 Sep; 92(3):318-322. PubMed ID: 28266016
[TBL] [Abstract][Full Text] [Related]
3. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Sun WH; Yang Y; Zhang YP; Li XT; Zhang M; Cao Y; Wang Y
Zhonghua Er Ke Za Zhi; 2011 May; 49(5):356-60. PubMed ID: 21624287
[TBL] [Abstract][Full Text] [Related]
4. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH; Lee BH; Kim JH; Kim GH; Kim YM; Cho J; Cheon CK; Ko JM; Lee JH; Yoo HW
J Hum Genet; 2015 Sep; 60(9):501-7. PubMed ID: 25994866
[TBL] [Abstract][Full Text] [Related]
5. A simple screening method for heterozygous female patients with ornithine transcarbamylase deficiency.
Iijima H; Kubota M
Mol Genet Metab; 2022 Nov; 137(3):301-307. PubMed ID: 36252454
[TBL] [Abstract][Full Text] [Related]
6. The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
Zhou Q; Huang H; Ma L; Zhu T
Biomed Res Int; 2020; 2020():5690915. PubMed ID: 32934962
[TBL] [Abstract][Full Text] [Related]
7. Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
Sugahara G; Yamasaki C; Yanagi A; Furukawa S; Ogawa Y; Fukuda A; Enosawa S; Umezawa A; Ishida Y; Tateno C
J Inherit Metab Dis; 2021 May; 44(3):618-628. PubMed ID: 33336822
[TBL] [Abstract][Full Text] [Related]
8. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH; Kim GH; Yoo HW; Cheon CK
Pediatr Neurol; 2014 Sep; 51(3):354-359.e1. PubMed ID: 25011434
[TBL] [Abstract][Full Text] [Related]
9. Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency.
Imoto K; Tanaka M; Goya T; Aoyagi T; Takahashi M; Kurokawa M; Tashiro S; Kato M; Kohjima M; Ogawa Y
BMC Gastroenterol; 2022 Mar; 22(1):144. PubMed ID: 35346058
[TBL] [Abstract][Full Text] [Related]
10. Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
Koya Y; Shibata M; Senju M; Honma Y; Hiura M; Ishii M; Matsumoto S; Harada M
Intern Med; 2019 Apr; 58(7):937-942. PubMed ID: 30449781
[TBL] [Abstract][Full Text] [Related]
11. Early intervention for late-onset ornithine transcarbamylase deficiency.
Fujisawa D; Mitsubuchi H; Matsumoto S; Iwai M; Nakamura K; Hoshide R; Harada N; Yoshino M; Endo F
Pediatr Int; 2015; 57(1):e1-3. PubMed ID: 25711267
[TBL] [Abstract][Full Text] [Related]
12. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
Arranz JA; Riudor E; Marco-Marín C; Rubio V
J Inherit Metab Dis; 2007 Apr; 30(2):217-26. PubMed ID: 17334707
[TBL] [Abstract][Full Text] [Related]
13. Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
Lee T; Yoshii K; Yoshida S; Suga T; Nakamura K; Sasai H; Murayama K; Kobayashi H; Hasegawa Y; Takeshima Y
Clin Chim Acta; 2020 Nov; 510():633-637. PubMed ID: 32828733
[TBL] [Abstract][Full Text] [Related]
14. [Consensus on diagnosis and treatment of ornithine trans-carbamylase deficiency].
Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 49(5):539-547. PubMed ID: 33210478
[TBL] [Abstract][Full Text] [Related]
15. A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation.
Tarasenko TN; Rosas OR; Singh LN; Kristaponis K; Vernon H; McGuire PJ
PLoS One; 2015; 10(2):e0116594. PubMed ID: 25647322
[TBL] [Abstract][Full Text] [Related]
16. The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Staretz-Chacham O; Daas S; Ulanovsky I; Blau A; Rostami N; Saraf-Levy T; Abu Salah N; Anikster Y; Banne E; Dar D; Dumin E; Fattal-Valevski A; Falik-Zaccai T; Hershkovitz E; Josefsberg S; Khammash H; Keidar R; Korman SH; Landau Y; Lerman-Sagie T; Mandel D; Mandel H; Marom R; Morag I; Nadir E; Yosha-Orpaz N; Pode-Shakked B; Pras E; Reznik-Wolf H; Saada A; Segel R; Shaag A; Shaul Lotan N; Spiegel R; Tal G; Vaisid T; Zeharia A; Almashanu S
J Inherit Metab Dis; 2021 May; 44(3):606-617. PubMed ID: 33190319
[TBL] [Abstract][Full Text] [Related]
17. Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency.
Peng MZ; Li XZ; Mei HF; Sheng HY; Yin X; Jiang MY; Cai YN; Su L; Lin YT; Shao YX; Liu L
Clin Biochem; 2020 Oct; 84():63-72. PubMed ID: 32569589
[TBL] [Abstract][Full Text] [Related]
18. [Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
Wang Y; Liu X; Wu H; Liu H; Wang C; He X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):148-51. PubMed ID: 24711021
[TBL] [Abstract][Full Text] [Related]
19. Prenatal treatment of ornithine transcarbamylase deficiency.
Wilnai Y; Blumenfeld YJ; Cusmano K; Hintz SR; Alcorn D; Benitz WE; Berquist WE; Bernstein JA; Castillo RO; Concepcion W; Cowan TM; Cox KL; Lyell DJ; Esquivel CO; Homeyer M; Hudgins L; Hurwitz M; Palma JP; Schelley S; Akula VP; Summar ML; Enns GM
Mol Genet Metab; 2018 Mar; 123(3):297-300. PubMed ID: 29396029
[TBL] [Abstract][Full Text] [Related]
20. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
Rahayatri TH; Uchida H; Sasaki K; Shigeta T; Hirata Y; Kanazawa H; Mali V; Fukuda A; Sakamoto S; Kasahara M
Pediatr Transplant; 2017 Feb; 21(1):. PubMed ID: 27891735
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
