Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations
- PMID: 15692798
- DOI: 10.1007/s00535-004-1502-y
Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations
Similar articles
-
[Acute hyperammonemic encephalopathy in ornithine transcarbamylase deficiency].Neurologia. 2009 Jun;24(5):345-6. Neurologia. 2009. PMID: 20050118 Spanish. No abstract available.
-
Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.Am J Emerg Med. 2015 Mar;33(3):474.e1-3. doi: 10.1016/j.ajem.2014.08.038. Epub 2014 Aug 23. Am J Emerg Med. 2015. PMID: 25227973
-
[Hyperammonemia type II as an example of urea cycle disorder].Wiad Lek. 2006;59(7-8):512-5. Wiad Lek. 2006. PMID: 17209350 Review. Polish.
-
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.Hum Mutat. 2002 Feb;19(2):185-6. doi: 10.1002/humu.9011. Hum Mutat. 2002. PMID: 11793483
-
Mutations and polymorphisms in the human ornithine transcarbamylase gene.Hum Mutat. 2002 Feb;19(2):93-107. doi: 10.1002/humu.10035. Hum Mutat. 2002. PMID: 11793468 Review.
Cited by
-
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.Front Genet. 2022 Oct 11;13:952467. doi: 10.3389/fgene.2022.952467. eCollection 2022. Front Genet. 2022. PMID: 36303552 Free PMC article.
-
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19. J Genet Genomics. 2015. PMID: 26059767 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical