Therapeutic effect of N-carbamylglutamate in CPS1 deficiency-Reference-Cited by-同舟云学术

Therapeutic effect of N-carbamylglutamate in CPS1 deficiency

Published:2020-09 Issue: Volume:24 Page:100622
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Sugiyama Yohei,Shimura Masaru,Ogawa-Tominaga Minako,Ebihara Tomohiro,Kinouchi Yoshina,Isozaki Keitaro,Matsuhashi Tetsuro,Tajika Makiko,Fushimi Takuya,Ichimoto Keiko,Matsunaga Ayako,Ishida Tomoki,Mizutani Kayo,Tsuruoka Tomoko,Murayama Kei

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference18 articles.

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2. Targeting CPS1 in the treatment of carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder;Diez-Fernandez;Expert Opin. Ther. Tar.,2017

3. Estimated frequency of urea cycle enzymopathies in Japan;Nagata;Am. J. Med. Genet.,1991

4. Suggested guidelines for the diagnosis and management of urea cycle disorders;Häberle;Orphanet. J. Rare Dis.,2012

5. Long-term outcome and intervention of urea cycle disorders in Japan;Kido;J. Inherit. Metab. Dis.,2012

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency;BMC Pediatrics;2024-08-22

2. Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency;Journal of Pediatric Endocrinology and Metabolism;2023-07-10

3. Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review;BMC Medical Genomics;2023-06-26

4. Acute Encephalopathy Caused by Inherited Metabolic Diseases;Journal of Clinical Medicine;2023-05-31

5. Genetic background and clinical characteristics of infantile hyperammonemia;Translational Pediatrics;2023-05