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Select item 109586251.

Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency

Hyunho Seol, Yoon Hee Hong, Min Ji Jeon

AACE Clin Case Rep. 2024 Mar-Apr; 10(2): 71–74. Published online 2024 Jan 24. doi: 10.1016/j.aace.2024.01.005

PMCID:: PMC10958625

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Select item 107634782.

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle, Carlo Dionisi-Vici

Orphanet J Rare Dis. 2024; 19: 3. Published online 2024 Jan 2. doi: 10.1186/s13023-023-02997-8

PMCID:: PMC10763478

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Select item 106947333.

Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study

Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen

Mol Genet Metab Rep. 2023 Dec; 37: 101020. Published online 2023 Nov 5. doi: 10.1016/j.ymgmr.2023.101020

PMCID:: PMC10694733

Article PDF–599K

Select item 106947314.

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation

Adhuresa Ramosaj, Palak Singhal, André Schaller, Alexander Laemmle

Mol Genet Metab Rep. 2023 Dec; 37: 101007. Published online 2023 Sep 6. doi: 10.1016/j.ymgmr.2023.101007

PMCID:: PMC10694731

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Select item 104535425.

Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency

Majitha Seyed Ibrahim, Jessica I. Gold, Alison Woodall, Berna Seker Yilmaz, Paul Gissen, Karolina M. Stepien

Children (Basel) 2023 Aug; 10(8): 1368. Published online 2023 Aug 9. doi: 10.3390/children10081368

PMCID:: PMC10453542

Article PDF–308K

Select item 104520606.

Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency

Berna Seker Yilmaz, Paul Gissen

Biomedicines. 2023 Aug; 11(8): 2227. Published online 2023 Aug 8. doi: 10.3390/biomedicines11082227

PMCID:: PMC10452060

Article PDF–914K

Select item 103721647.

Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice

Kazuto Yamazaki, Kenji Kubara, Satoko Ishii, Keita Kondo, Yuta Suzuki, Takayuki Miyazaki, Kaoru Mitsuhashi, Masashi Ito, Kappei Tsukahara

Mol Ther Nucleic Acids. 2023 Sep 12; 33: 210–226. Published online 2023 Jul 4. doi: 10.1016/j.omtn.2023.06.023

PMCID:: PMC10372164

Article PDF–5.5M

Select item 101598628.

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

RaeLynn Forsyth, Ryan H. Peretz, Angela Dempsey, Jacquelyn Britton, Lisa Kratz, Ada Hamosh, Hilary Vernon, Mark L. Batshaw, David Valle

JIMD Rep. 2023 May; 64(3): 233–237. Published online 2023 Jan 29. doi: 10.1002/jmd2.12361

PMCID:: PMC10159862

Article PDF–832K

Select item 101203329.

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 981748210.

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 981748111.

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

Article PDF–687K

Select item 981748012.

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

Article PDF–685K

Select item 981747913.

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

Article PDF–464K

Select item 981747714.

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

Article PDF–329K

Select item 969585615.

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

Article PDF–2.4M

Select item 968522916.

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

Article PDF–434K

Select item 967606217.

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

Article PDF–782K

Select item 963963818.

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

Article PDF–1.2M

Select item 959309619.

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

Article PDF–1.0M

Select item 957560820.

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

Article PDF–1005K

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