SEARCH

SEARCH BY CITATION

Cited in:

CrossRef

This article has been cited by:

  1. 1
    Mureo Kasahara, Seisuke Sakamoto, Reiko Horikawa, Umeshita Koji, Koichi Mizuta, Masato Shinkai, Yagi Takahito, Tomoaki Taguchi, Yukihiro Inomata, Shinji Uemoto, Kuroda Tatsuo, Shunichi Kato, Living donor liver transplantation for pediatric patients with metabolic disorders: The Japanese multicenter registry, Pediatric Transplantation, 2014, 18, 1
  2. 2
    Yoo-Mi Kim, Beom Hee Lee, Jin-Ho Choi, Gu-Hwan Kim, Han Hyuk Lim, Han-Wook Yoo, A case with combined rare inborn metabolic disorders: Congenital adrenal hyperplasia and ornithine transcarbamylase deficiency, Gene, 2013, 527, 1, 394

    CrossRef

  3. 3
    A. Mukhtar, H. Dabbous, R. El Sayed, F. Aboulfetouh, M. Bahaa, A. Abdelaal, M. Fathy, M. El-Meteini, A Novel Mutation of the Ornithine Transcarbamylase Gene Leading to Fatal Hyperammonemia in a Liver Transplant Recipient, American Journal of Transplantation, 2013, 13, 4
  4. 4
    G Storkanova, H Vlaskova, N Chuzhanova, J Zeman, V Stranecky, F Majer, K Peskova, O Luksan, M Jirsa, M Hrebicek, L Dvorakova, Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families, Clinical Genetics, 2013, 84, 6
  5. 5
    Sarah C Grünert, Pablo Villavicencio-Lorini, Bendicht Wermuth, Willy Lehnert, Jörn Sass, K Schwab, Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management, Journal of Diabetes & Metabolic Disorders, 2013, 12, 1, 37

    CrossRef

  6. 6
    Albina Tummolo, Vito Favia, Rosa Bellantuono, Vito Bellino, Antonio Ranieri, Amelia Morrone, Tommaso De Palo, Francesco Papadia, Successful Early Management of a Female Patient With a Metabolic Stroke Due to Ornithine Transcarbamylase Deficiency, Pediatric Emergency Care, 2013, 29, 5, 656

    CrossRef

  7. 7
    T. Wakiya, Y. Sanada, T. Urahashi, Y. Ihara, N. Yamada, N. Okada, S. Egami, K. Sakamoto, K. Murayama, K. Hakamada, Y. Yasuda, K. Mizuta, Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency, Pediatric Transplantation, 2012, 16, 6
  8. 8
    Derek A. Wong, Ornithine transcarbamylase deficiency: Are carrier females suitable donors?, Pediatric Transplantation, 2012, 16, 6
  9. 9
    Sinéad M. Murphy, Richard Ovens, James Polke, Carly E. Siskind, Matilde Laurà, Karen Bull, Gita Ramdharry, Henry Houlden, Raymond P.J. Murphy, Michael E. Shy, Mary M. Reilly, X inactivation in females with X-linked Charcot–Marie–Tooth disease, Neuromuscular Disorders, 2012, 22, 7, 617

    CrossRef

  10. 10
    Allison M. Cotton, Lucia Lam, Joslynn G. Affleck, Ian M. Wilson, Maria S. Peñaherrera, Deborah E. McFadden, Michael S. Kobor, Wan L. Lam, Wendy P. Robinson, Carolyn J. Brown, Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation, Human Genetics, 2011, 130, 2, 187

    CrossRef

  11. 11
    T. Wakiya, Y. Sanada, K. Mizuta, M. Umehara, T. Urahasi, S. Egami, S. Hishikawa, T. Fujiwara, Y. Sakuma, M. Hyodo, K. Murayama, K. Hakamada, Y. Yasuda, H. Kawarasaki, Living donor liver transplantation for ornithine transcarbamylase deficiency, Pediatric Transplantation, 2011, 15, 4
  12. 12
    K. K. White, Orthopaedic aspects of mucopolysaccharidoses, Rheumatology, 2011, 50, suppl 5, v26

    CrossRef

  13. 13
    L. A. Clarke, Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator, Rheumatology, 2011, 50, suppl 5, v13

    CrossRef

  14. 14
    Fabiola Quintero-Rivera, Joshua L. Deignan, Jane Peredo, Wayne W. Grody, Barbara Crandall, Maureen Sims, Stephen D. Cederbaum, An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: Implications for the prenatal diagnosis of ornithine transcarbamylase deficiency, Molecular Genetics and Metabolism, 2010, 101, 4, 413

    CrossRef

  15. 15
    S. Balasubramaniam, C. Rudduck, B. Bennetts, G. Peters, B. Wilcken, C. Ellaway, Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency, Molecular Genetics and Metabolism, 2010, 99, 1, 34

    CrossRef

  16. 16
    Mizuho Ono, Junnosuke Tsuda, Yoko Mouri, Junichi Arai, Tadao Arinami, Emiko Noguchi, Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array, Clinical Pediatric Endocrinology, 2010, 19, 2, 25

    CrossRef

  17. 17
    R Quental, L Azevedo, V Rubio, L Diogo, A Amorim, Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene, Clinical Genetics, 2009, 75, 5
  18. 18
    Karen Helene Ørstavik, X chromosome inactivation in clinical practice, Human Genetics, 2009, 126, 3, 363

    CrossRef

  19. 19
    D. C. Martin, V. Atmuri, R. J. Hemming, J. Farley, J. S. Mort, S. Byers, S. Hombach-Klonisch, R. Stern, B. L. Triggs-Raine, A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis, Human Molecular Genetics, 2008, 17, 13, 1904

    CrossRef

  20. 20
    G R Nagy, C R Largiadèr, J-M Nuoffer, B Nagy, L Lázár, Z Papp, Novel mutation in OTC gene causes neonatal death in twin brothers, Journal of Perinatology, 2007, 27, 2, 123

    CrossRef

  21. 21
    Sibylle Jakubiczka, Thomas Bettecken, Klaus Mohnike, Reinhard Schneppenheim, Markus Stumm, Holger Tönnies, Marianne Volleth, Peter Wieacker, Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC, European Journal of Pediatrics, 2007, 166, 7, 743

    CrossRef

  22. 22
    Daisuke Morioka, Mureo Kasahara, Yasutsugu Takada, Yasumasa Shirouzu, Kaoru Taira, Seisuke Sakamoto, Kenji Uryuhara, Hiroto Egawa, Hiroshi Shimada, Koichi Tanaka, Current role of liver transplantation for the treatment of urea cycle disorders: A review of the worldwide English literature and 13 cases at Kyoto University, Liver Transplantation, 2005, 11, 11
  23. 23
    Imma Rost, Hanns-Georg Klein, Genetische Diagnostik bei mentaler Retardierung Genetic testing for diseases associated with mental retardation, LaboratoriumsMedizin, 2005, 29, 3, 152

    CrossRef

  24. 24
    Daisuke Morioka, Mureo Kasahara, Yasutsugu Takada, Jose Pablo Garbanzo Corrales, Atsushi Yoshizawa, Seisuke Sakamoto, Kaoru Taira, Elena Yukie Yoshitoshi, Hiroto Egawa, Hiroshi Shimada, Koichi Tanaka, Living Donor Liver Transplantation for Pediatric Patients with Inheritable Metabolic Disorders, American Journal of Transplantation, 2005, 5, 11
  25. 25
    Martin Zenker, Bendicht Wermuth, Udo Trautmann, Ina Knerr, Cornelia Kraus, Anita Rauch, André Reis, Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11), American Journal of Medical Genetics Part A, 2005, 132A, 2
  26. 26
    Satoshi Sumi, Masayuki Imaeda, Tetsuya Ito, Akihito Ueta, Kyoko Ban, Yumiko Ohkubo, Hajime Togari, Urinary uracil in female patients with ornithine transcarbamylase deficiency, Pediatrics International, 2005, 47, 3
  27. 27
    K. Ohmi, D. S. Greenberg, K. S. Rajavel, S. Ryazantsev, H. H. Li, E. F. Neufeld, Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB, Proceedings of the National Academy of Sciences, 2003, 100, 4, 1902

    CrossRef

  28. 28
    Rita Gaspari, Andrea Arcangeli, Sonia Mensi, Denise Schembri Wismayer, Tommaso Tartaglione, Daniela Antuzzi, Giorgio Conti, Rodolfo Proietti, Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma, Annals of Emergency Medicine, 2003, 41, 1, 104

    CrossRef

  29. 29
    Mindy Anderson-Cohen, Steve M Holland, Doug B Kuhns, Thomas A Fleisher, Li Ding, Sebastian Brenner, Harry L Malech, Joachim Roesler, Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation, Clinical Immunology, 2003, 109, 3, 308

    CrossRef

  30. 30
    IVF Children, 2002,

    CrossRef

  31. 31
    Hironori Nagasaka, Tohru Yorifuji, Hiroto Egawa, Hideaki Kikuta, Koichi Tanaka, Kunihiko Kobayashi, Successful living-donor liver transplantation from an asymptomatic carrier mother in ornithine transcarbamylase deficiency, The Journal of Pediatrics, 2001, 138, 3, 432

    CrossRef

  32. 32
    Pierre F. Ray, Nadine Gigarel, Jean Paul Bonnefont, Tania Attié, Samir Hamamah, Nelly Frydman, Michel Vekemans, René Frydman, Arnold Munnich, First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency, Prenatal Diagnosis, 2000, 20, 13
  33. 33
    Luísa Azevedo, António Amorim, Ornithine Transcarbamylase Deficiency: Genetics, eLS,