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Camacho J, Rioseco-Camacho N. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. In: GeneReviews\u2122 [Internet]. Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, Eds. University of Washington, Seattle, 2012: 1993-2021."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Camacho JA, Obie C, Biery B, et al. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 22: 151-158, 1999.","DOI":"10.1038\/9658"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Summar ML, Koelker S, Freedenberg D, et al. The incidence of urea cycle disorders. Mol Genet Metab 110: 179-180, 2013.","DOI":"10.1016\/j.ymgme.2013.07.008"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Oyanagi K, Tsuchiyama A, Itakura Y, et al. The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria. 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Brain Dev 12: 533-535, 1990.","DOI":"10.1016\/S0387-7604(12)80222-1"},{"key":"8","unstructured":"8. Shigeto H, Yamada T, Kobayashi T, Goto I. A case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome with spastic paraparesis and severe distal muscle atrophy of lower limbs. Rinsho Shinkeigaku 32: 729-732, 1992 (in Japanese, Abstract in English)."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Tsujino S, Kanazawa N, Ohashi T, et al. Three novel mutations (G27E, insAAC, R179X) in the <i>ORNT1<\/i> gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome. Ann Neurol 47: 625-631, 2000.","DOI":"10.1002\/1531-8249(200005)47:5<625::AID-ANA10>3.0.CO;2-Q"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Miyamoto T, Kanazawa N, Kato S, et al. Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J Hum Genet 46: 260-262, 2001.","DOI":"10.1007\/s100380170075"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Miyamoto T, Kanazawa N, Hayakawa C, Tsujino S. A novel mutation, P126R, in a Japanese patient with HHH syndrome. Pediatr Neurol 26: 65-67, 2002.","DOI":"10.1016\/S0887-8994(01)00335-6"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Torisu H, Kira R, Kanazawa N, et al. A novel R275X mutation of the <i>SLC25A15<\/i> gene in a Japanese patient with the HHH syndrome. Brain Dev 28: 332-335, 2006.","DOI":"10.1016\/j.braindev.2005.10.002"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Ono H, Tamada T, Shigematsu Y. Lactate\/pyruvate in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Pediatr Int 60: 762-764, 2018.","DOI":"10.1111\/ped.13608"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE. Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta 413: 1151-1155, 2012.","DOI":"10.1016\/j.cca.2012.03.015"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Filosto M, Alberici A, Tessa A, Padovani A, Santorelli FM. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition. Neurol Sci 34: 1699-1701, 2013.","DOI":"10.1007\/s10072-012-1266-8"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Silfverberg T, Sahlander F, Enlund M, Oscarson M, H\u00e5rdstedt M. Late onset hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - how web searching by the family solved unexplained unconsciousness: a case report. J Med Case Rep 12: 274, 2018.","DOI":"10.1186\/s13256-018-1794-9"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Gropman A. Brain imaging in urea cycle disorders. Mol Genet Metab 100: S20-S30, 2010.","DOI":"10.1016\/j.ymgme.2010.01.017"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Takanashi J, Kurihara A, Tomita M, et al. Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency. Neurology 59: 210-214, 2002.","DOI":"10.1212\/WNL.59.2.210"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Willard-Mack CL, Koehler RC, Hirata T, et al. Inhibition of glutamine synthetase reduces ammonia-induced astrocyte swelling in rat. Neuroscience 71: 589-599, 1996.","DOI":"10.1016\/0306-4522(95)00462-9"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Takahashi H, Koehler RC, Brusilow SW, Traystman RJ. Inhibition of brain glutamine accumulation prevents cerebral edema in hyperammonemic rats. Am J Physiol 261: H825-H829, 1991.","DOI":"10.1152\/ajpheart.1991.261.3.H825"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Martinelli D, Diodato D, Ponzi E, et al. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. 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