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Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review
Author / Creator:Lin, Yiming ; Gao, Hongzhi ; Lu, Bin ; Zhou, Shuang ; Zheng, Tianwen ; Lin, Weihua ; Zhu, Lin ; Jiang, Mengyi ; Fu, Qingliu
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2019-06, Vol.20 (1), p.110-7, Article 110
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Early prediction of phenotypic severity in Citrullinemia Type 1
Author / Creator:Zielonka, Matthias ; Kölker, Stefan ; Gleich, Florian ; Stützenberger, Nicolas ; Nagamani, Sandesh C. S. ; Gropman, Andrea L. ; Hoffmann, Georg F. ; Garbade, Sven F. ; Posset, Roland
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1858-1871
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Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia
Author / Creator:Hayasaka, Kiyoshi ; Numakura, Chikahiko ; Yamakawa, Mitsunori ; Mitsui, Tetsuo ; Watanabe, Hisayoshi ; Haga, Hiroaki ; Yazaki, Masahide ; Ohira, Hiromasa ; Ochiai, Yasuo ; Tahara, Toshiyuki ; Nakahara, Tamio ; Yamashiki, Noriyo ; Nakayama, Takahiro ; Kon, Takashi ; Mitsubuchi, Hiroshi ; Yoshida, Hiroshi
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-09, Vol.41 (5), p.777-784
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Hyperammonemia in a pregnant woman with citrullinemia type I: a case report and literature review
Author / Creator:Zhou, Yimeng ; Dou, Xiaoguang ; Zhang, Chong ; He, Rong ; Ding, Yang
Publisher:England: BioMed Central
Journal title:BMC pregnancy and childbirth, 2022-12, Vol.22 (1), p.950-7, Article 950
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Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice
Author / Creator:Bazo, Andrea ; Lantero, Aquilino ; Mauleón, Itsaso ; Neri, Leire ; Poms, Martin ; Häberle, Johannes ; Ricobaraza, Ana ; Bénichou, Bernard ; Combal, Jean-Philippe ; Gonzalez-Aseguinolaza, Gloria ; Aldabe, Rafael
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-12, Vol.23 (23), p.14940
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Adult-onset type II citrullinemia: Current insights and therapy
Author / Creator:Hayasaka, Kiyoshi ; Numakura, Chikahiko
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2018-01, Vol.11, p.163-170
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Sodium Valproate-induced Adult-onset Type 2 Citrullinemia
Author / Creator:Ateş, Başak Elçin ; Demir, Turgay ; Kor, Deniz ; Şahin, Remzi Emre ; Bıçakçı, Şebnem
Publisher:Ankara: Galenos Publishing House
Journal title:Türk nöroloji dergisi, 2022-09, Vol.28 (3), p.197-199
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Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats
Author / Creator:Delmonego Larissa ; Patachini, Maia Thayná ; Delwing-Dal Magro Débora ; Vincenzi, Karine Louize ; Lima, Aline Barbosa ; Pscheidt, Luana Carla ; Eger Letícia ; Delwing-de Lima Daniela
Publisher:New York: Springer Nature B.V
Journal title:Metabolic brain disease, 2021-04, Vol.36 (4), p.685-699
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Effects of resveratrol on alterations in cerebrum energy metabolism caused by metabolites accumulated in type I citrullinemia in rats
Author / Creator:Vincenzi, Karine Louize ; Patachini, Maia Thayna ; Delmônego Larissa ; Lima, Aline Barbosa ; Pscheidt, Luana Carla ; Delwing-Dal Magro Débora ; Delwing-de Lima Daniela
Publisher:Heidelberg: Springer Nature B.V
Journal title:Naunyn-Schmiedeberg's archives of pharmacology, 2021-05, Vol.394 (5), p.873-884
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Type 1 citrullinemia patient with Brugada pattern undergoing general anesthesia for dental extractions: A case report
Author / Creator:Dell’Olio, Fabio ; Lorusso, Pantaleo ; Siciliani, Rosaria Arianna ; Massaro, Maria ; Barile, Giuseppe ; Tempesta, Angela ; Grasso, Salvatore ; Favia, Gianfranco ; Limongelli, Luisa
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2023-08, Vol.11 (8), p.e7657-n/a
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Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series
Author / Creator:Hassanlou, Maryam ; Abiri, Maryam ; Zeinali, Sirous
Publisher:Iran: Yazd Shahid Sadoughi University of Medical Sciences, Research and Clinical Center for Infertility
Journal title:International journal of reproductive biomedicine (Yazd, Iran), 2022-12, Vol.20 (12), p.1047-1050
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Anesthetic Management of a Patient With Citrullinemia Type I During Dental Treatment
Author / Creator:Shibuya, Makiko ; Iwamoto, Rie ; Kimura, Yukifumi ; Kamekura, Nobuhito ; Fujisawa, Toshiaki
Publisher:United States: Allen Press Inc
Journal title:Anesthesia progress, 2021-10, Vol.68 (3), p.158-162
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Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant
Author / Creator:Selamioğlu, Arzu ; Kılıç, Şebnem ; Aslanger, Ayça Dilruba ; Karaca, Meryem ; Balcı, Mehmet Cihan ; Uyguner, Zehra Oya ; Gökçay, Gülden
Publisher:Hacettepe University Institute of Child Health
Journal title:Turkish journal of pediatrics, 2025-07, Vol.67 (3), p.417-427
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Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1
Author / Creator:Chandler, R J ; Tarasenko, T N ; Cusmano-Ozog, K ; Sun, Q ; Sutton, V R ; Venditti, C P ; McGuire, P J
Publisher:London: Nature Publishing Group UK
Journal title:Gene therapy, 2013-12, Vol.20 (12), p.1188-1191
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Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants
Author / Creator:Daou, Melissa ; Souaid, Mirna ; Yammine, Tony ; Khneisser, Issam ; Mansour, Hicham ; Salem, Nabiha ; Nemr, Antony ; Awwad, Johnny ; Moukarzel, Adib ; Farra, Chantal
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-02, Vol.11 (2), p.e2058-n/a
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Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report
Author / Creator:Borsuk, Michael ; Saab, Mathew ; Tobin, Michael
Publisher:United States: University of California Digital Library - eScholarship
Journal title:Clinical practice and cases in emergency medicine, 2023-02, Vol.7 (1), p.20-23
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Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations
Author / Creator:Moarefian, Shirin ; Zamani, Mahdi ; Rahmanifar, Ali ; Behnam, Babak ; Zaman, Talieh
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-05, Vol.63 (3), p.231-239
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A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough
Author / Creator:Bruni, Laura ; Cassio, Alessandra ; Di Natale, Valeria ; Baronio, Federico ; Ortolano, Rita ; Pession, Andrea ; Piraccini, Bianca Maria ; Neri, Iria
Publisher:Basel: MDPI AG
Journal title:Children (Basel), 2023-08, Vol.10 (9), p.1491
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Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation
Author / Creator:Ruxmohan, Samir ; Quinonez, Jonathan ; Choudhari, Jinal ; Poudel, Sujan ; Pandav, Krunal
Publisher:Palo Alto (CA): Cureus
Journal title:Curēus (Palo Alto, CA), 2021-05, Vol.13 (5), p.e15109
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Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review
Author / Creator:Kido, Jun ; Sugawara, Keishin ; Tavoulari, Sotiria ; Makris, Georgios ; Rüfenacht, Véronique ; Nakamura, Kimitoshi ; Kunji, Edmund R S ; Häberle, Johannes
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:Human mutation, 2025-01, Vol.2025
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Showing 1 to 20 of 312 results

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

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Early prediction of phenotypic severity in Citrullinemia Type 1

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Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult–onset type II citrullinemia

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

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

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Adult-onset type II citrullinemia: Current insights and therapy

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Sodium Valproate-induced Adult-onset Type 2 Citrullinemia

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Protective effect of resveratrol on citrullinemia type I-induced brain oxidative damage in male rats

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Effects of resveratrol on alterations in cerebrum energy metabolism caused by metabolites accumulated in type I citrullinemia in rats

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

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Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G>A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series

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

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Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant

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Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1

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

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

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

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

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

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Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review

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