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1965 1
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Page 1
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB, Chen MA, Colombo R, Pontoglio A, Alhaddad B, Botto LD, Yuzyuk T, Coughlin CR, Descartes M, Grűnewald S, Maranda B, Mills PB, Pitt J, Potente C, Rodenburg R, Kluijtmans LA, Sampath S, Pai EF, Wevers RA, Tiller GE; additional individual contributors. Wortmann SB, et al. J Inherit Metab Dis. 2017 May;40(3):423-431. doi: 10.1007/s10545-017-0015-9. Epub 2017 Feb 15. J Inherit Metab Dis. 2017. PMID: 28205048 Free PMC article.
All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with complete loss of function. The remaining variants were missense changes and predicted to be damaging to the normal encoded protein. ...
All individuals were found to have heterozygous alterations in UMPS. Four of these variants were predicted to be null alleles with co …
Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies.
Cunningham SC, van Dijk EB, Zhu E, Sugden M, Mandwie M, Siew S, Devanapalli B, Tolun AA, Klein A, Wilson L, Aryamanesh N, Gissen P, Baruteau J, Bhattacharya K, Alexander IE. Cunningham SC, et al. Hum Gene Ther. 2023 Sep;34(17-18):917-926. doi: 10.1089/hum.2023.011. Epub 2023 Sep 11. Hum Gene Ther. 2023. PMID: 37350098
Realization of the immense therapeutic potential of epigenetic editing requires development of clinically predictive model systems that faithfully recapitulate relevant aspects of the target disease pathophysiology. ...
Realization of the immense therapeutic potential of epigenetic editing requires development of clinically predictive model systems th …
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.
Huang YT, Chien Y-, Yeh HY, Lin SJ, Lu FL, Chou SP, Lin JM, Chiang SC, Hwu WL. Huang YT, et al. J Formos Med Assoc. 2003 Dec;102(12):851-6. J Formos Med Assoc. 2003. PMID: 14976564
It is an X-linked semidominant disease with variable severity affecting both males and females. The characteristics and course have not been assessed in Taiwanese. This study analyzed the phenotype and genotype of OTC deficiency in Taiwanese. ...
It is an X-linked semidominant disease with variable severity affecting both males and females. The characteristics and course have n …
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW. Choi JH, et al. J Hum Genet. 2015 Sep;60(9):501-7. doi: 10.1038/jhg.2015.54. J Hum Genet. 2015. PMID: 25994866
Early diagnosis and interventions for hyperammonemia can provide more favorable prognosis....
Early diagnosis and interventions for hyperammonemia can provide more favorable prognosis....
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Shchelochkov OA, et al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24. Mol Genet Metab. 2010. PMID: 20728387
We identified one previously reported splice site mutation, c.317-2A>G and a novel mutation c.494G>A (p.G165D) in an evolutionarily conserved region predicted to be deleterious. This variant was not identified in 100 chromosomes of healthy control subjects and 200 ch …
We identified one previously reported splice site mutation, c.317-2A>G and a novel mutation c.494G>A (p.G165D) in an evolutionarily co …
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.
Scaglia F, Scheuerle AE, Towbin JA, Armstrong DL, Sweetman L, Wong LJ. Scaglia F, et al. BMC Pediatr. 2002 Dec 30;2:12. doi: 10.1186/1471-2431-2-12. Epub 2002 Dec 30. BMC Pediatr. 2002. PMID: 12507404 Free PMC article.
BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal pro …
BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine …
Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.
MacLeod P, Mackenzie S, Scriver CR. MacLeod P, et al. Can Med Assoc J. 1972 Sep 9;107(5):405-8. Can Med Assoc J. 1972. PMID: 5074751 Free PMC article.
The possibility of genetic heterogeneity for the hereditary trait under observation must be considered because it may influence prognosis and counselling....
The possibility of genetic heterogeneity for the hereditary trait under observation must be considered because it may influence prognosis …
Prenatal diagnosis for arginase deficiency: a case study.
Hewson S, Clarke JT, Cederbaum S. Hewson S, et al. J Inherit Metab Dis. 2003;26(6):607-10. doi: 10.1023/a:1025964401618. J Inherit Metab Dis. 2003. PMID: 14605507
Testing for arginase activity assay in red blood cells, isolated by cordocentesis, was performed and predicted an unaffected fetus. The result was confirmed by postnatal enzyme analysis of red cells from the newborn. ...
Testing for arginase activity assay in red blood cells, isolated by cordocentesis, was performed and predicted an unaffected fetus. T …
Pyrimidine metabolism in hereditary orotic aciduria.
Sumi S, Suchi M, Kidouchi K, Morishita H, Ohba S, Wada Y. Sumi S, et al. J Inherit Metab Dis. 1997 Mar;20(1):104-5. doi: 10.1023/a:1005330127995. J Inherit Metab Dis. 1997. PMID: 9061575 No abstract available.
12 results