PubMed for id: 104491

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Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder.

Amirkashani D, Talebi S, Vafaei Shahi M, Zekri A, Abdi P, Mehramiz M. Amirkashani D, et al. Am J Ophthalmol Case Rep. 2024 Mar 28;34:102044. doi: 10.1016/j.ajoc.2024.102044. eCollection 2024 Jun. Am J Ophthalmol Case Rep. 2024. PMID: 38601192 Free PMC article.

Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report.

Zhao H, Yu X, Cheng J, Chen D, Xu Q, Sheng J, Shi Y. Zhao H, et al. Heliyon. 2023 Nov 1;9(11):e21760. doi: 10.1016/j.heliyon.2023.e21760. eCollection 2023 Nov. Heliyon. 2023. PMID: 38027652 Free PMC article.

Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.

Pontrucher A, Barth M, Ziegler A, Chao de la Barca JM, Mirebeau-Prunier D, Reynier P, Homedan C. Pontrucher A, et al. Front Neurol. 2023 Nov 9;14:1266686. doi: 10.3389/fneur.2023.1266686. eCollection 2023. Front Neurol. 2023. PMID: 38020658 Free PMC article.

[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].

Dong R, Zhang K, Guo H, Zhang G, Lyu Y, Gao M, Gai Z, Liu Y. Dong R, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1345-1349. doi: 10.3760/cma.j.cn511374-20210702-00566. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37906139 Chinese.

Citrullinemia and What Else?

Almeida J, Ferreira F, Baptista N, Ferreira S, Santos C, Diogo L. Almeida J, et al. Endocr Metab Immune Disord Drug Targets. 2023 Oct 18. doi: 10.2174/0118715303280142231006103019. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859410

A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough.

Bruni L, Cassio A, Di Natale V, Baronio F, Ortolano R, Pession A, Piraccini BM, Neri I. Bruni L, et al. Children (Basel). 2023 Aug 31;10(9):1491. doi: 10.3390/children10091491. Children (Basel). 2023. PMID: 37761452 Free PMC article.

Lethality rescue and long-term amelioration of a citrullinemia type I mouse model by neonatal gene-targeting combined to SaCRISPR-Cas9.

Lisjak M, Iaconcig A, Guarnaccia C, Vicidomini A, Moretti L, Collaud F, Ronzitti G, Zentilin L, Muro AF. Lisjak M, et al. Mol Ther Methods Clin Dev. 2023 Aug 28;31:101103. doi: 10.1016/j.omtm.2023.08.022. eCollection 2023 Dec 14. Mol Ther Methods Clin Dev. 2023. PMID: 37744006 Free PMC article.

Type 1 citrullinemia patient with Brugada pattern undergoing general anesthesia for dental extractions: A case report.

Dell'Olio F, Lorusso P, Siciliani RA, Massaro M, Barile G, Tempesta A, Grasso S, Favia G, Limongelli L. Dell'Olio F, et al. Clin Case Rep. 2023 Aug 10;11(8):e7657. doi: 10.1002/ccr3.7657. eCollection 2023 Aug. Clin Case Rep. 2023. PMID: 37575462 Free PMC article.

Adult-onset Type II Citrullinemia Developed under Dietary Restrictions during Imprisonment.

Suzuki T, Matsuura K, Imura N, Kawamura H, Kuno K, Fujiwara K, Nojiri S, Ito S, Togawa T, Kataoka H. Suzuki T, et al. Intern Med. 2024 Mar 15;63(6):833-837. doi: 10.2169/internalmedicine.1954-23. Epub 2023 Jul 26. Intern Med. 2024. PMID: 37495534 Free PMC article.

Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.

Liu J, Wang Z, Yan H, Teng Y, Shi Q, Chen J, Tang W, Yu W, Peng Y, Xi H, Ma N, Liang D, Li Z, Wu L. Liu J, et al. Front Genet. 2023 Jul 7;14:1172947. doi: 10.3389/fgene.2023.1172947. eCollection 2023. Front Genet. 2023. PMID: 37485339 Free PMC article.

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