A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

References

1. ↵
   1. Häberle J

   (2013) Clinical and biochemical aspects of primary and secondary hyperammonemic disorders. Arch Biochem Biophys 536:101–108.

   OpenUrlCrossRef
2. ↵
   1. Häberle J,
   2. Boddaert N,
   3. Burlina A,
   4. Chakrapani A,
   5. Dixon M,
   6. Huemer M,
   7. et al.

   (2012) Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 7:32.

   OpenUrlCrossRefPubMed
3. ↵
   1. Testai FD,
   2. Gorelick PB

   (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch Neurol 67:148–153.

   OpenUrlCrossRefPubMedWeb of Science
4. ↵
   1. Summar ML,
   2. Koelker S,
   3. Freedenberg D,
   4. Le Mons C,
   5. Haberle J,
   6. Lee HS,
   7. et al.

   (2013) The incidence of urea cycle disorders. Mol Genet Metab 110:179–180.

   OpenUrlPubMed
5. ↵
   1. Yamaguchi S,
   2. Brailey LL,
   3. Morizono H,
   4. Bale AE,
   5. Tuchman M

   (2006) Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat 27:626–632.

   OpenUrlCrossRefPubMedWeb of Science
6. ↵
   1. Shchelochkov OA,
   2. Li F-Y,
   3. Geraghty MT,
   4. Gallagher RC,
   5. Van Hove JL,
   6. Lichter-Konecki U,
   7. et al.

   (2009) High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab 96:97–105.

   OpenUrlCrossRefPubMedWeb of Science
7. ↵
   1. Houdayer C

   (2011) In silico prediction of splice-affecting nucleotide variants. Methods Mol Biol Clifton NJ 760:269–281.

   OpenUrl
8. ↵
   1. Batshaw ML,
   2. Tuchman M,
   3. Summar M,
   4. Seminara J,
   5. Members of the Urea Cycle Disorders Consortium

   (2014) A longitudinal study of urea cycle disorders. Mol Genet Metab 113:127–130.

   OpenUrlCrossRefPubMed
9. ↵
   1. Ogino W,
   2. Takeshima Y,
   3. Nishiyama A,
   4. Okizuka Y,
   5. Yagi M,
   6. Tsuneishi S,
   7. et al.

   (2007) Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation. Kobe J Med Sci 53:229–240.

   OpenUrlPubMed
10. ↵
    1. Diaz GA,
    2. Krivitzky LS,
    3. Mokhtarani M,
    4. Rhead W,
    5. Bartley J,
    6. Feigenbaum A,
    7. et al.

    (2013) Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatol Baltim Md 57:2171–2179.

    OpenUrl