Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2013 1
2019 2
2020 2
2021 2
2022 6
2023 5
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

16 results

Results by year

Filters applied: . Clear all
Page 1
Ornithine Transcarbamylase Deficiency.
Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E. Lichter-Konecki U, et al. 2013 Aug 29 [updated 2022 May 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2013 Aug 29 [updated 2022 May 26]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24006547 Free Books & Documents. Review.
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
Ibrahim MS, Gold JI, Woodall A, Yilmaz BS, Gissen P, Stepien KM. Ibrahim MS, et al. Children (Basel). 2023 Aug 9;10(8):1368. doi: 10.3390/children10081368. Children (Basel). 2023. PMID: 37628367 Free PMC article. Review.
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. ...
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, i
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Gissen P. Seker Yilmaz B, et al. Biomedicines. 2023 Aug 8;11(8):2227. doi: 10.3390/biomedicines11082227. Biomedicines. 2023. PMID: 37626723 Free PMC article. Review.
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current dietary and medical treatments may not be sufficient to prevent hyperammonemic episodes, which can cause death or neurological sequelae. ...
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder with high unmet needs, as current d
Adeno-associated virus vector-based gene therapies for pediatric diseases.
Muramatsu K, Muramatsu SI. Muramatsu K, et al. Pediatr Neonatol. 2023 Feb;64 Suppl 1:S3-S9. doi: 10.1016/j.pedneo.2022.09.004. Epub 2022 Sep 30. Pediatr Neonatol. 2023. PMID: 36266189 Free article. Review.
AAV vectors have been applied to the development of gene therapies for various pediatric diseases. Gene therapy trials for hemophilia and ornithine transcarbamylase deficiency are underway. Clinical trials are planned for glucose transporter I deficiency, Nie …
AAV vectors have been applied to the development of gene therapies for various pediatric diseases. Gene therapy trials for hemophilia and …
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening.
Vasquez-Loarte T, Thompson JD, Merritt JL 2nd. Vasquez-Loarte T, et al. Int J Neonatal Screen. 2020 Oct 8;6(4):77. doi: 10.3390/ijns6040077. Int J Neonatal Screen. 2020. PMID: 33124615 Free PMC article. Review.
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and …
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screen …
Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.
Jin X, Zeng X, Zhao D, Jiang N. Jin X, et al. Brain Behav. 2022 Oct;12(10):e2765. doi: 10.1002/brb3.2765. Epub 2022 Sep 20. Brain Behav. 2022. PMID: 36128655 Free PMC article. Review.
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is a genetic metabolic disease. ...
BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is a genetic metabolic disease. ...
[Preliminary study of glyceryl phenylbutyrate therapy for Ornithine transcarbamylase deficiency and a literature review].
Zhou D, Shang X, Qiao Y, Cheng Y, Yu Z, Huang X. Zhou D, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1107-1112. doi: 10.3760/cma.j.cn511374-20220624-00423. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37643956 Review. Chinese.
OBJECTIVE: To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamylase deficiency (OTCD). METHODS: Two children with OTCD were selected as the study subjects, and their clinical manifestations, blo …
OBJECTIVE: To evaluate the efficacy and safety of glyceryl phenylbutyrate (GPB) therapy for patients with Ornithine transcarbamyla
Marginal parental donors for pediatric living donor liver transplantation.
Kasahara M, Sakamoto S, Fukuda A, Uchida H, Yi NJ, Schlegel A, Muiesan P, Qiang X, Gao W, Zhu ZJ, Rodriguez-Davalos M, Rela M. Kasahara M, et al. Curr Opin Organ Transplant. 2022 Aug 1;27(4):346-350. doi: 10.1097/MOT.0000000000000990. Curr Opin Organ Transplant. 2022. PMID: 36354261 Review.
RECENT FINDINGS: Based on 30 years of experience in pediatric living donor LT in Japan, we could identify marginal parental living donors who have potential risks following LT, including heterozygous mothers with ornithine transcarbamylase deficiency, heteroz …
RECENT FINDINGS: Based on 30 years of experience in pediatric living donor LT in Japan, we could identify marginal parental living donors wh …
Messenger RNA therapy for rare genetic metabolic diseases.
Berraondo P, Martini PGV, Avila MA, Fontanellas A. Berraondo P, et al. Gut. 2019 Jul;68(7):1323-1330. doi: 10.1136/gutjnl-2019-318269. Epub 2019 Feb 22. Gut. 2019. PMID: 30796097 Review.
Here we summarise this new class of drugs and discuss the preclinical evidence supporting the potential of liver-mediated mRNA therapy for three rare genetic conditions: methylmalonic acidaemia, acute intermittent porphyria and ornithine transcarbamylase deficien
Here we summarise this new class of drugs and discuss the preclinical evidence supporting the potential of liver-mediated mRNA therapy for t …
[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. 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 25;49(5):539-547. doi: 10.3785/j.issn.1008-9292.2020.04.11. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020. PMID: 33210478 Free PMC article. Review. Chinese.
Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. ...
Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. ...
16 results