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Select item 105298681.

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

Laura Bruni, Alessandra Cassio, Valeria Di Natale, Federico Baronio, Rita Ortolano, Andrea Pession, Bianca Maria Piraccini, Iria Neri

Children (Basel) 2023 Sep; 10(9): 1491. Published online 2023 Aug 31. doi: 10.3390/children10091491

PMCID:: PMC10529868

Article PDF–1.4M

Select item 105144692.

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

Michela Lisjak, Alessandra Iaconcig, Corrado Guarnaccia, Antonio Vicidomini, Laura Moretti, Fanny Collaud, Giuseppe Ronzitti, Lorena Zentilin, Andrés F. Muro

Mol Ther Methods Clin Dev. 2023 Dec 14; 31: 101103. Published online 2023 Aug 28. doi: 10.1016/j.omtm.2023.08.022

PMCID:: PMC10514469

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Select item 103603983.

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

Jing Liu, Zhongjie Wang, Huiming Yan, Yanling Teng, Qingxin Shi, Jing Chen, Wanglan Tang, Wenxian Yu, Ying Peng, Hui Xi, Na Ma, Desheng Liang, Zhuo Li, Lingqian Wu

Front Genet. 2023; 14: 1172947. Published online 2023 Jul 7. doi: 10.3389/fgene.2023.1172947

PMCID:: PMC10360398

Article PDF–2.1M

Select item 99833434.

Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report

Michael Borsuk, Mathew Saab, Michael Tobin

Clin Pract Cases Emerg Med. 2023 Feb; 7(1): 20–23. Published online 2023 Jan 24. doi: 10.5811/cpcem.2022.10.57277

PMCID:: PMC9983343

Article PDF–369K

Select item 99387495.

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants

Melissa Daou, Mirna Souaid, Tony Yammine, Issam Khneisser, Hicham Mansour, Nabiha Salem, Antony Nemr, Johnny Awwad, Adib Moukarzel, Chantal Farra

Mol Genet Genomic Med. 2023 Feb; 11(2): e2058. Published online 2023 Jan 20. doi: 10.1002/mgg3.2058

PMCID:: PMC9938749

Article PDF–985K

Select item 99289746.

Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G equation M1

A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series

Maryam Hassanlou, Maryam Abiri, Sirous Zeinali

Int J Reprod Biomed. 2022 Dec; 20(12): 1047–1050. Published online 2023 Jan 9. doi: 10.18502/ijrm.v20i12.12567

PMCID:: PMC9928974

Article PDF–644K

Select item 97621017.

Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review

Yimeng Zhou, Xiaoguang Dou, Chong Zhang, Rong He, Yang Ding

BMC Pregnancy Childbirth. 2022; 22: 950. Published online 2022 Dec 19. doi: 10.1186/s12884-022-05298-3

PMCID:: PMC9762101

Article PDF–1.5M

Select item 97369888.

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

Andrea Bazo, Aquilino Lantero, Itsaso Mauleón, Leire Neri, Martin Poms, Johannes Häberle, Ana Ricobaraza, Bernard Bénichou, Jean-Philippe Combal, Gloria Gonzalez-Aseguinolaza, Rafael Aldabe

Int J Mol Sci. 2022 Dec; 23(23): 14940. Published online 2022 Nov 29. doi: 10.3390/ijms232314940

PMCID:: PMC9736988

Article PDF–2.4M

Select item 95743389.

Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations

Mei Xiong, Mingwu Chen

Front Pediatr. 2022; 10: 992156. Published online 2022 Oct 3. doi: 10.3389/fped.2022.992156

PMCID:: PMC9574338

Article PDF–4.2M

Select item 899583910.

Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations

Shirin Moarefian, Mahdi Zamani, Ali Rahmanifar, Babak Behnam, Talieh Zaman

JIMD Rep. 2022 May; 63(3): 231–239. Published online 2022 Mar 9. doi: 10.1002/jmd2.12277

PMCID:: PMC8995839

Article PDF–1.1M

Select item 850032011.

Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment

Makiko Shibuya, Rie Iwamoto, Yukifumi Kimura, Nobuhito Kamekura DDS, Toshiaki Fujisawa

Anesth Prog. 2021 Fall; 68(3): 158–162. Published online 2021 Oct 4. doi: 10.2344/anpr-68-02-04

PMCID:: PMC8500320

Article PDF–194K

Select item 833128812.

Nutritional Management in a Patient with Citrullinemia Type 1

Hyejin Kang, Mihyang Kim, Ji Hyun Lee

Clin Nutr Res. 2021 Jul; 10(3): 268–277. Published online 2021 Jul 20. doi: 10.7762/cnr.2021.10.3.268

PMCID:: PMC8331288

Article PDF–1.3M

Select item 821243513.

Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation

Samir Ruxmohan, Jonathan Quinonez, Jinal Choudhari, Sujan Poudel, Krunal Pandav

Cureus. 2021 May; 13(5): e15109. Published online 2021 May 19. doi: 10.7759/cureus.15109

PMCID:: PMC8212435

Article PDF–116K

Select item 733005914.

A novel Romani microdeletion variant in the promoter sequence of ASS1 causes citrullinemia type I

Eri Imagawa, George A. Diaz, Kimihiko Oishi

Mol Genet Metab Rep. 2020 Sep; 24: 100619. Published online 2020 Jun 29. doi: 10.1016/j.ymgmr.2020.100619

PMCID:: PMC7330059

Article PDF–1.0M

Select item 676463515.

Early prediction of phenotypic severity in Citrullinemia Type 1

Matthias Zielonka, Stefan Kölker, Florian Gleich, Nicolas Stützenberger, Sandesh C. S. Nagamani, Andrea L. Gropman, Georg F. Hoffmann, Sven F. Garbade, Roland Posset, the Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E‐IMD) Consortia Study Group

Ann Clin Transl Neurol. 2019 Sep; 6(9): 1858–1871. Published online 2019 Aug 30. doi: 10.1002/acn3.50886

PMCID:: PMC6764635

Article PDF–735K

Select item 660112216.

Late-Onset Citrullinemia Type I: A Radiological Mimic of Herpes Encephalitis

Razia A. Kadwa, Naveen Sankhyan, Chirag K. Ahuja, Pratibha Singhi

J Pediatr Neurosci. 2019 Jan-Mar; 14(1): 36–37. doi: 10.4103/jpn.JPN_12_18

PMCID:: PMC6601122

Article

Select item 658046417.

Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang, Qingliu Fu

BMC Med Genet. 2019; 20: 110. Published online 2019 Jun 17. doi: 10.1186/s12881-019-0836-5

PMCID:: PMC6580464

Article PDF–847K

Select item 553110418.

Extracellular vesicles from human liver stem cells restore argininosuccinate synthase deficiency

Maria Beatriz Herrera Sanchez, Sara Previdi, Stefania Bruno, Valentina Fonsato, Maria Chiara Deregibus, Sharad Kholia, Sara Petrillo, Emanuela Tolosano, Rossana Critelli, Marco Spada, Renato Romagnoli, Mauro Salizzoni, Ciro Tetta, Giovanni Camussi

Stem Cell Res Ther. 2017; 8: 176. Published online 2017 Jul 27. doi: 10.1186/s13287-017-0628-9