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Items: 1 to 20 of 22

1.
Postoperative hyperammonemic encephalopathy due to unexpected constipation in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a case report
Haruka Tachibana, Nobuhiko Ohashi, Gaku Okumura, Ryusuke Tanaka, Satoshi Fuseya, Sayako Gotoh, Takashi Ishida, Sari Shimizu, Mikito Kawamata, Satoshi Tanaka
JA Clin Rep. 2024 Dec; 10: 42. Published online 2024 Jun 21. doi: 10.1186/s40981-024-00726-z
Correction in:
JA Clin Rep. 2024 Dec; 10: 72.
PMCID:
PMC11192701
AbstractArticlePDF–758K
2.
Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report
Fajr M A Sarhan, Afnan W.M. Jobran, Ali Fayyad, Zaid Ghanim, Imad Dweikat, Shireen Elewie, Ala Mustafa Habboub
Ann Med Surg (Lond) 2022 Dec; 84: 104842. Published online 2022 Nov 8. doi: 10.1016/j.amsu.2022.104842
PMCID:
PMC9793129
AbstractArticlePDF–2.1M
3.
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene
Imad Dweikat, Reham Khalaf-Nazzal
Front Genet. 2022; 13: 1004598. Published online 2022 Nov 24. doi: 10.3389/fgene.2022.1004598
PMCID:
PMC9730883
AbstractArticlePDF–1.0M
4.
A Novel Mutation of ORNT1 Detected in a Hyperornithinemia–Hyperammonemia–Homocitrullinuria Syndrome Child by Clinical Whole-Exome Sequencing
Wison Laochareonsuk, Seksit Osatakul, Utcharee Intusoma, Wanwisa Maneechay, Surasak Sangkhathat
J Pediatr Genet. 2024 Sep; 13(3): 205–210. Published online 2022 Feb 10. doi: 10.1055/s-0041-1742247
PMCID:
PMC11288712
AbstractArticlePDF–1.6M
5.
Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report
Silene M. Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Johannes Häberle, Adriana Gruppi, Laura E. Larovere, Ruben D. Motrich
Front Immunol. 2022; 13: 861516. Published online 2022 May 27. doi: 10.3389/fimmu.2022.861516
PMCID:
PMC9196877
AbstractArticlePDF–3.9M
6.
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Yumi Hoshino, Minori Kodaira, Atsuhiro Matsuno, Tomoki Kaneko, Tetsuhiro Fukuyama, Kyoko Takano, Masahide Yazaki, Yoshiki Sekijima
Intern Med. 2022 Feb 15; 61(4): 553–557. Published online 2021 Aug 24. doi: 10.2169/internalmedicine.7843-21
PMCID:
PMC8907781
AbstractArticlePDF–1.0M
7.
Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
Meranthi Fernando, Suresh Vijay, Saikat Santra, Mary A Preece, Rachel Brown, Astor Rodrigues, Girish L Gupte
Euroasian J Hepatogastroenterol. 2021 Jul-Dec; 11(2): 100–102. doi: 10.5005/jp-journals-10018-1351
PMCID:
PMC8566159
AbstractArticlePDF–513K
8.
Role of early management of hyperornithinaemia‐hyperammonaemia‐homocitrullinuria syndrome in pregnancy
Matthew James Billingham, Rania Rizk
BMJ Case Rep. 2021; 14(7): e241424. Published online 2021 Jul 1. doi: 10.1136/bcr-2020-241424
PMCID:
PMC8252674
AbstractArticlePDF–1.6M
9.
Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literature
Bernice Ho, Jennifer MacKenzie, Jagdeep Walia, Michael Geraghty, Graeme Smith, Julie Nedvidek, Andrea Guerin
JIMD Rep. 2019 Mar; 46(1): 28–34. Published online 2019 Mar 14. doi: 10.1002/jmd2.12025
PMCID:
PMC6498866
AbstractArticlePDF–784K
10.
Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications
Kamer Tezcan, Kristal T. Louie, Yong Qu, Jorge Velasquez, Frank Zaldivar, Natalia Rioseco-Camacho, José Angel Camacho
JIMD Rep. 2012; 3: 97–102. Published online 2011 Sep 22. doi: 10.1007/8904_2011_71
PMCID:
PMC3509867
AbstractArticlePDF–293K
11.
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
Katherine Taylor Wild, Rebecca D. Ganetzky, Marc Yudkoff, Lynne Ierardi-Curto
JIMD Rep. 2019; 44: 103–107. Published online 2018 Sep 6. doi: 10.1007/8904_2018_132
PMCID:
PMC6323011
AbstractArticlePDF–191K
12.
Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report
Thomas Silfverberg, Fredrik Sahlander, Magnus Enlund, Mikael Oscarson, Maria Hårdstedt
J Med Case Rep. 2018; 12: 274. Published online 2018 Sep 23. doi: 10.1186/s13256-018-1794-9
PMCID:
PMC6151189
AbstractArticlePDF–1.0M
13.
The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi-Vici
Orphanet J Rare Dis. 2015; 10: 29. Published online 2015 Mar 11. doi: 10.1186/s13023-015-0242-9
PMCID:
PMC4358699
AbstractArticlePDF–1.1M
14.
Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine.
E. L. Berson, S. Y. Schmidt, A. R. Rabin
Br J Ophthalmol. 1976 Feb; 60(2): 142–147. doi: 10.1136/bjo.60.2.142
PMCID:
PMC1042687
SummaryPage BrowsePDF–719K
15.
Insights into the Mutation-Induced HHH Syndrome from Modeling Human Mitochondrial Ornithine Transporter-1
Jing-Fang Wang, Kuo-Chen Chou
PLoS One. 2012; 7(1): e31048. Published online 2012 Jan 26. doi: 10.1371/journal.pone.0031048
PMCID:
PMC3266937
AbstractArticlePDF–794K
16.
A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
Nagehan Ersoy Tunalı, Carlo M.T. Marobbio, N. Ozan Tiryakioğlu, Giuseppe Punzi, Seha K. Saygılı, Hasan Önal, Ferdinando Palmieri
Mol Genet Metab. 2014 May; 112(1): 25–29. doi: 10.1016/j.ymgme.2014.03.002
PMCID:
PMC4015418
AbstractArticle
17.
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici
Orphanet J Rare Dis. 2019; 14: 208. Published online 2019 Aug 23. doi: 10.1186/s13023-019-1181-7
PMCID:
PMC6708179
AbstractArticlePDF–1017K
18.
Improving Long Term Outcomes in Urea Cycle Disorders-Report from the Urea Cycle Disorders Consortium
Susan Waisbren, Andrea Gropman, Members of the UCDC, Mark L. Batshaw
J Inherit Metab Dis. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: J Inherit Metab Dis. 2016 Jul; 39(4): 573–584. Published online 2016 May 23. doi: 10.1007/s10545-016-9942-0
PMCID:
PMC4921309
AbstractArticlePDF–1.1M
19.
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans
Mara Doimo, Raffaele Lopreiato, Valentina Basso, Raissa Bortolotto, Alessandra Tessa, Filippo M. Santorelli, Eva Trevisson, Leonardo Salviati
JIMD Rep. 2016; 28: 119–126. Published online 2015 Nov 21. doi: 10.1007/8904_2015_514
PMCID:
PMC5059204
AbstractArticlePDF–529K
20.
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management
Sarah C Grünert, Pablo Villavicencio-Lorini, Bendicht Wermuth, Willy Lehnert, Jörn Oliver Sass, K Otfried Schwab
J Diabetes Metab Disord. 2013; 12: 37. Published online 2013 Jul 5. doi: 10.1186/2251-6581-12-37
PMCID:
PMC3706312
AbstractArticlePDF–415K

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