Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1990.tb03565.x/fullpdf
Reference11 articles.
1. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency;Batshaw;J. Pediatr.,1986
2. Ornithine transcarbamylase deficiencies in human males: kinetic and immunochemical classification;Briand;Biochem. Biophys. Acta.,1982
3. Allopurinol induced orotidinuria. A test of heterozygosity for ornithine transcarbamylase deficiency;Brusilow;Pediatr. Res.,1987
4. Late onset ornithine carbamoyl transferase deficiency in males;Drogari;Arch. Dis. Child.,1988
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1. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease;Orphanet Journal of Rare Diseases;2024-01-02
2. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease;2023-07-20
3. Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation;Human Genome Variation;2018-08-16
4. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene;Human Mutation;2006-07
5. Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid;Pediatric Critical Care Medicine;2006-05
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