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Select item 101203321.

新生儿鸟氨酸氨甲酰基转移酶缺乏症

高瑞伟, 巴音, 张蓉, 曹云, 杨琳, 吴冰冰, 周文浩, 周建国

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Apr 15; 25(4): 431–435. Chinese. doi: 10.7499/j.issn.1008-8830.2302023

PMCID:: PMC10120332

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Select item 98174822.

Benefits of tailored disease management in improving tremor, white matter hyperintensities, and liver enzymes in a child with heterozygous X-linked ornithine transcarbamylase deficiency

Ashley Andrews, Sarah Roberts, Lorenzo D. Botto

Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100891. Published online 2022 Jul 2. doi: 10.1016/j.ymgmr.2022.100891

PMCID:: PMC9817482

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Select item 98174813.

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities

Jessica Abbott, Mia Senzatimore, Paldeep Atwal

Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100916. Published online 2022 Sep 9. doi: 10.1016/j.ymgmr.2022.100916

PMCID:: PMC9817481

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Select item 98174804.

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency

Annette Feigenbaum, Leah Lamale-Smith, Lawrence Weinstein

Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100894. Published online 2022 Jul 12. doi: 10.1016/j.ymgmr.2022.100894

PMCID:: PMC9817480

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Select item 98174795.

Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency

Joshua Baker, Lauren Hitchins, Erika Vucko, Kirsten Havens, Karen Becker, Katherine Arduini

Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100906. Published online 2022 Jul 30. doi: 10.1016/j.ymgmr.2022.100906

PMCID:: PMC9817479

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Select item 98174776.

Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes

Annette Feigenbaum

Mol Genet Metab Rep. 2022 Dec; 33(Suppl 1): 100941. Published online 2022 Dec 15. doi: 10.1016/j.ymgmr.2022.100941

PMCID:: PMC9817477

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Select item 96958567.

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen

Life (Basel) 2022 Nov; 12(11): 1721. Published online 2022 Oct 27. doi: 10.3390/life12111721

PMCID:: PMC9695856

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Select item 96852298.

Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia

Yuya Tanaka, Mitsuru Matsuki, Rieko Furukawa, Waka Nakata, Yoshio Sakurai, Sayaka Ajihara, Akiko Kawano, Harushi Mori

BMJ Neurol Open. 2022; 4(2): e000354. Published online 2022 Nov 22. doi: 10.1136/bmjno-2022-000354

PMCID:: PMC9685229

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Select item 96760629.

Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment

Satsuki Yamamoto, Shun Yamashita, Toshihiko Kakiuchi, Kazuya Kurogi, Tomoyo M. Nishi, Masaki Tago, Shu-ichi Yamashita

Am J Case Rep. 2022; 23: e937658-1–e937658-6. Published online 2022 Nov 15. doi: 10.12659/AJCR.937658

PMCID:: PMC9676062

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Select item 963963810.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency

Svenja Scharre, Roland Posset, Sven F. Garbade, Florian Gleich, Marie J. Seidl, Ann‐Catrin Druck, Jürgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Georg F. Hoffmann, Stefan Kölker, Matthias Zielonka, for 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. 2022 Nov; 9(11): 1715–1726. Published online 2022 Oct 10. doi: 10.1002/acn3.51668

PMCID:: PMC9639638

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Select item 959309611.

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review

Jun Kido, Keishin Sugawara, Takaaki Sawada, Shirou Matsumoto, Kimitoshi Nakamura

Front Genet. 2022; 13: 952467. Published online 2022 Oct 11. doi: 10.3389/fgene.2022.952467

PMCID:: PMC9593096

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Select item 957560812.

Liver transplantation in rare late‐onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature

Xin Jin, Xinchen Zeng, Dong Zhao, Nan Jiang

Brain Behav. 2022 Oct; 12(10): e2765. Published online 2022 Sep 20. doi: 10.1002/brb3.2765

PMCID:: PMC9575608

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Select item 951762013.

Psychological Stress Triggers a Hyperammonemia Episode in Patient with Ornithine Transcarbamylase Deficiency

Valentín Emilio Fernández-Elías, José Francisco Tornero-Aguilera, Jose Alberto Parraca, Vicente Javier Clemente-Suárez

Int J Environ Res Public Health. 2022 Sep; 19(18): 11516. Published online 2022 Sep 13. doi: 10.3390/ijerph191811516

PMCID:: PMC9517620

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Select item 935743514.

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery

John Lung, Sunil Sathappan, Isra Sabir, Richard Maier

Cureus. 2022 Jul; 14(7): e26667. Published online 2022 Jul 8. doi: 10.7759/cureus.26667

PMCID:: PMC9357435

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Select item 929532115.

Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Alexander Laemmle, Martin Poms, Bernadette Hsu, Mariia Borsuk, Véronique Rüfenacht, Joshua Robinson, Martin C. Sadowski, Jean‐Marc Nuoffer, Johannes Häberle, Holger Willenbring

Hepatology. 2022 Sep; 76(3): 646–659. Published online 2021 Dec 18. doi: 10.1002/hep.32247

PMCID:: PMC9295321

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Select item 925939416.

A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard de Jong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk

JIMD Rep. 2022 Jul; 63(4): 271–275. Published online 2022 Apr 12. doi: 10.1002/jmd2.12289

PMCID:: PMC9259394

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Select item 925417817.

Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report

Xiao-Hui Fu, Yu-Hui Hu, Jian-Xiang Liao, Li Chen, Zhan-Qi Hu, Jia-Lun Wen, Shu-Li Chen

World J Clin Cases. 2022 Jun 26; 10(18): 6156–6162. Published online 2022 Jun 26. doi: 10.12998/wjcc.v10.i18.6156

PMCID:: PMC9254178

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Select item 912083318.

Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation

Hiroi Eguchi, Toshihiko Kakiuchi, Masanori Nishi, Kanako Kojima-Ishii, Kei Nishiyama, Yuhki Koga, Muneaki Matsuo

Front Pediatr. 2022; 10: 898531. Published online 2022 May 6. doi: 10.3389/fped.2022.898531

PMCID:: PMC9120833

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Select item 911712019.

Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

Gabriella Pinho, Gabriela Ross, Kaila Krishnamoorthy, Christina Kresge, Ling Yu Shih, Joseph J. Apuzzio, Shauna F. Williams

Case Rep Womens Health. 2022 Apr; 34: e00390. Published online 2022 Jan 30. doi: 10.1016/j.crwh.2022.e00390

PMCID:: PMC9117120

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Select item 896200720.

Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

Koji Imoto, Masatake Tanaka, Takeshi Goya, Tomomi Aoyagi, Motoi Takahashi, Miho Kurokawa, Shigeki Tashiro, Masaki Kato, Motoyuki Kohjima, Yoshihiro Ogawa

BMC Gastroenterol. 2022; 22: 144. Published online 2022 Mar 28. doi: 10.1186/s12876-022-02213-0

PMCID:: PMC8962007

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