1: Sulkowska JI, Sulkowski P, Szymczak P, Cieplak M. Stabilizing effect of knots on proteins. Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19714-9. Epub 2008 Dec 8. PMID: 19064918 [PubMed - indexed for MEDLINE] 2: Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML; Urea Cycle Disorders Consortium of the Rare Diseases Clinical Research Network. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab. 2008 Aug;94(4):397-402. Epub 2008 Jun 17. PMID: 18562231 [PubMed - indexed for MEDLINE] 3: Takagi M, Yonezawa T, Haga S, Shingu H, Kobayashi Y, Takahashi T, Ohtani Y, Obara Y, Katoh K. Changes of activity and mRNA expression of urea cycle enzymes in the liver of developing Holstein calves. J Anim Sci. 2008 Jul;86(7):1526-32. Epub 2008 Mar 14. PMID: 18344300 [PubMed - indexed for MEDLINE] 4: Lien J, Nyhan WL, Barshop BA. Fatal initial adult-onset presentation of urea cycle defect. Arch Neurol. 2007 Dec;64(12):1777-9. PMID: 18071043 [PubMed - indexed for MEDLINE] 5: Lee HS, Jun JH, Choi HW, Lim CK, Yoo HW, Koong MK, Kang IS. Preimplantation genetic diagnosis for ornithine transcarbamylase deficiency by simultaneous analysis of duplex-nested PCR and fluorescence in situ hybridization: a case report. J Korean Med Sci. 2007 Jun;22(3):572-6. PMID: 17596675 [PubMed - indexed for MEDLINE] 6: Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mutat. 2007 Nov;28(11):1133-40. PMID: 17565723 [PubMed - indexed for MEDLINE] 7: Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis. 2007 Aug;30(4):507-14. Epub 2007 Mar 8. PMID: 17347912 [PubMed - indexed for MEDLINE] 8: Davids BJ, Palm JE, Housley MP, Smith JR, Andersen YS, Martin MG, Hendrickson BA, Johansen FE, Sv?rd SG, Gillin FD, Eckmann L. Polymeric immunoglobulin receptor in intestinal immune defense against the lumen-dwelling protozoan parasite Giardia. J Immunol. 2006 Nov 1;177(9):6281-90. PMID: 17056558 [PubMed - indexed for MEDLINE] 9: Fukuda J, Okamura K, Ishihara K, Mizumoto H, Nakazawa K, Ijima H, Kajiwara T, Funatsu K. Differentiation effects by the combination of spheroid formation and sodium butyrate treatment in human hepatoblastoma cell line (Hep G2): a possible cell source for hybrid artificial liver. Cell Transplant. 2005;14(10):819-27. PMID: 16454356 [PubMed - indexed for MEDLINE] 10: Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Crit Care Clin. 2005 Oct;21(4 Suppl):S19-25. Review. PMID: 16227112 [PubMed - indexed for MEDLINE] 11: Scaglia F, Carter S, O'Brien WE, Lee B. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. PMID: 15050979 [PubMed - indexed for MEDLINE] 12: Jadoun J, Shadkchan Y, Osherov N. Disruption of the Aspergillus fumigatus argB gene using a novel in vitro transposon-based mutagenesis approach. Curr Genet. 2004 Apr;45(4):235-41. Epub 2004 Jan 15. PMID: 14727059 [PubMed - indexed for MEDLINE] 13: Terada K, Ueno S, Yomogida K, Imai T, Kiyonari H, Takeda N, Yano M, Abe S, Aizawa S, Mori M. Expression of Tom34 splicing isoforms in mouse testis and knockout of Tom34 in mice. J Biochem. 2003 May;133(5):625-31. PMID: 12801914 [PubMed - indexed for MEDLINE] 14: Azevedo L, Stolnaja L, Tietzeova E, Hrebicek M, Hruba E, Vilarinho L, Amorim A, Dvorakova L. New polymorphic sites within ornithine transcarbamylase gene: population genetics studies and implications for diagnosis. Mol Genet Metab. 2003 Feb;78(2):152-7. PMID: 12618087 [PubMed - indexed for MEDLINE] 15: Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene] Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):19-22. Chinese. PMID: 12579493 [PubMed - indexed for MEDLINE] 16: Tonon T, Bourdineaud JP, Lonvaud-Funel A. The arcABC gene cluster encoding the arginine deiminase pathway of Oenococcus oeni, and arginine induction of a CRP-like gene. Res Microbiol. 2001 Sep;152(7):653-61. PMID: 11605985 [PubMed - indexed for MEDLINE] 17: Rapp B, H?berle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. Eur J Pediatr. 2001 May;160(5):283-7. PMID: 11388595 [PubMed - indexed for MEDLINE] 18: Ray PF, Gigarel N, Bonnefont JP, Atti? T, Hamamah S, Frydman N, Vekemans M, Frydman R, Munnich A. First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency. Prenat Diagn. 2000 Dec;20(13):1048-54. PMID: 11180228 [PubMed - indexed for MEDLINE] 19: Shi D, Morizono H, Aoyagi M, Tuchman M, Allewell NM. Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution. Proteins. 2000 Jun 1;39(4):271-7. PMID: 10813810 [PubMed - indexed for MEDLINE] 20: Quesada V, Ponce MR, Micol JL. OTC and AUL1, two convergent and overlapping genes in the nuclear genome of Arabidopsis thaliana. FEBS Lett. 1999 Nov 12;461(1-2):101-6. PMID: 10561504 [PubMed - indexed for MEDLINE] 21: Khoo AS, Balraj P, Rachedi A, Chin CN, Volpi L. A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree. Hum Mutat. 1999 Nov;14(5):448. No abstract available. PMID: 10533073 [PubMed - indexed for MEDLINE] 22: Shi D, Morizono H, Ha Y, Aoyagi M, Tuchman M, Allewell NM. 1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency. J Biol Chem. 1998 Dec 18;273(51):34247-54. PMID: 9852088 [PubMed - indexed for MEDLINE] 23: Ye X, Gao GP, Pabin C, Raper SE, Wilson JM. Evaluating the potential of germ line transmission after intravenous administration of recombinant adenovirus in the C3H mouse. Hum Gene Ther. 1998 Sep 20;9(14):2135-42. PMID: 9759939 [PubMed - indexed for MEDLINE] 24: Mawal YR, Rama Rao KV, Qureshi IA. Restoration of hepatic cytochrome c oxidase activity and expression with acetyl-L-carnitine treatment in spf mice with an ornithine transcarbamylase deficiency. Biochem Pharmacol. 1998 Jun 1;55(11):1853-60. PMID: 9714304 [PubMed - indexed for MEDLINE] 25: Watanabe A, Sekizawa A, Taguchi A, Saito H, Yanaihara T, Shimazu M, Matsuda I. Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood. Hum Genet. 1998 Jun;102(6):611-5. PMID: 9703419 [PubMed - indexed for MEDLINE] 26: Sattlegger E, Hinnebusch AG, Barthelmess IB. cpc-3, the Neurospora crassa homologue of yeast GCN2, encodes a polypeptide with juxtaposed eIF2alpha kinase and histidyl-tRNA synthetase-related domains required for general amino acid control. J Biol Chem. 1998 Aug 7;273(32):20404-16. PMID: 9685394 [PubMed - indexed for MEDLINE] 27: Yoo HW, Kim GH. Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency. J Korean Med Sci. 1998 Apr;13(2):179-85. PMID: 9610619 [PubMed - indexed for MEDLINE] 28: Kogo T, Satoh Y, Kanazawa M, Yamamoto S, Takayanagi M, Ohtake A, Mori M, Niimi H. Expression analysis of two mutant human ornithine transcarbamylases in COS-7 cells. J Hum Genet. 1998;43(1):54-8. PMID: 9609999 [PubMed - indexed for MEDLINE] 29: Qureshi K, Rao KV, Qureshi IA. Differential inhibition by hyperammonemia of the electron transport chain enzymes in synaptosomes and non-synaptic mitochondria in ornithine transcarbamylase-deficient spf-mice: restoration by acetyl-L-carnitine. Neurochem Res. 1998 Jun;23(6):855-61. PMID: 9572674 [PubMed - indexed for MEDLINE] 30: Raper SE, Haskal ZJ, Ye X, Pugh C, Furth EE, Gao GP, Wilson JM. Selective gene transfer into the liver of non-human primates with E1-deleted, E2A-defective, or E1-E4 deleted recombinant adenoviruses. Hum Gene Ther. 1998 Mar 20;9(5):671-9. PMID: 9551615 [PubMed - indexed for MEDLINE] 31: Sanjurjo P, Ruiz JI, Montejo M. Inborn errors of metabolism with a protein-restricted diet: effect on polyunsaturated fatty acids. J Inherit Metab Dis. 1997 Nov;20(6):783-9. PMID: 9427146 [PubMed - indexed for MEDLINE] 32: Garc?a-P?rez MA, Climent C, Briones P, Vilaseca MA, Rod?s M, Rubio V. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency. J Inherit Metab Dis. 1997 Nov;20(6):769-77. PMID: 9427144 [PubMed - indexed for MEDLINE] 33: Koger JB, Jones EE. Nucleotide sequence of porcine OTCase cDNA. J Anim Sci. 1997 Dec;75(12):3368. No abstract available. PMID: 9420013 [PubMed - indexed for MEDLINE] 34: Wheeler VC, Aitken M, Coutelle C. Modification of the mouse mitochondrial genome by insertion of an exogenous gene. Gene. 1997 Oct 1;198(1-2):203-9. PMID: 9370282 [PubMed - indexed for MEDLINE] 35: Zhang YX, Patil SS. The phtE locus in the phaseolotoxin gene cluster has ORFs with homologies to genes encoding amino acid transferases, the AraC family of transcriptional factors, and fatty acid desaturases. Mol Plant Microbe Interact. 1997 Nov;10(8):947-60. PMID: 9353942 [PubMed - indexed for MEDLINE] 36: Ha Y, McCann MT, Tuchman M, Allewell NM. Substrate-induced conformational change in a trimeric ornithine transcarbamoylase. Proc Natl Acad Sci U S A. 1997 Sep 2;94(18):9550-5. PMID: 9275160 [PubMed - indexed for MEDLINE] 37: Vella S, Steiner F, Schlumbom V, Zurbr?gg R, Wiesmann UN, Schaffner T, Wermuth B. Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. J Inherit Metab Dis. 1997 Aug;20(4):517-24. PMID: 9266387 [PubMed - indexed for MEDLINE] 38: Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, Shimadzu M, Matsuda I. Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency. Am J Med Genet. 1997 Mar 17;69(2):177-81. PMID: 9056557 [PubMed - indexed for MEDLINE] 39: Morizono H, Tuchman M, Rajagopal BS, McCann MT, Listrom CD, Yuan X, Venugopal D, Barany G, Allewell NM. Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. Biochem J. 1997 Mar 1;322 ( Pt 2):625-31. PMID: 9065786 [PubMed - indexed for MEDLINE] 40: Williamson CL, Lake MR, Slocum RD. Isolation and characterization of a cDNA encoding a pea ornithine transcarbamoylase (argF) and comparison with other transcarbamoylases. Plant Mol Biol. 1996 Sep;31(6):1087-92. PMID: 8914525 [PubMed - indexed for MEDLINE] 41: Ruepp A, Soppa J. Fermentative arginine degradation in Halobacterium salinarium (formerly Halobacterium halobium): genes, gene products, and transcripts of the arcRACB gene cluster. J Bacteriol. 1996 Aug;178(16):4942-7. PMID: 8759859 [PubMed - indexed for MEDLINE] 42: Murata LB, Schachman HK. Structural similarity between ornithine and aspartate transcarbamoylases of Escherichia coli: implications for domain switching. Protein Sci. 1996 Apr;5(4):719-28. PMID: 8845762 [PubMed - indexed for MEDLINE] 43: Murata LB, Schachman HK. Structural similarity between ornithine and aspartate transcarbamoylases of Escherichia coli: characterization of the active site and evidence for an interdomain carboxy-terminal helix in ornithine transcarbamoylase. Protein Sci. 1996 Apr;5(4):709-18. PMID: 8845761 [PubMed - indexed for MEDLINE] 44: Hinsdale ME, Hamm DA, Wood PA. Effects of short-chain acyl-CoA dehydrogenase deficiency on development expression of metabolic enzyme genes in the mouse. Biochem Mol Med. 1996 Apr;57(2):106-15. PMID: 8733888 [PubMed - indexed for MEDLINE] 45: Greenwood AD, Burke DT. Single nucleotide primer extension: quantitative range, variability, and multiplex analysis. Genome Res. 1996 Apr;6(4):336-48. PMID: 8723726 [PubMed - indexed for MEDLINE] 46: Oppliger Leibundgut E, Wermuth B, Colombo JP, Liechti-Gallati S. Identification of four novel splice site mutations in the ornithine transcarbamylase gene. Hum Genet. 1996 Feb;97(2):209-13. PMID: 8566955 [PubMed - indexed for MEDLINE] 47: S?gues B, Veber PS, Rabier D, Calvas P, Saudubray JM, Gilbert-Dussardier B, Bonnefont JP, Munnich A. A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma. Hum Mutat. 1996;8(4):373-4. No abstract available. PMID: 8956045 [PubMed - indexed for MEDLINE] 48: Oppliger Leibundgut EO, Wermuth B, Colombo JP, Liechti-Gallati S. Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. Hum Mutat. 1996;8(4):333-9. PMID: 8956038 [PubMed - indexed for MEDLINE] 49: Yoo HW, Kim GH, Lee DH. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. J Inherit Metab Dis. 1996;19(1):31-42. PMID: 8830175 [PubMed - indexed for MEDLINE] 50: Grandori R, Lavoie TA, Pflumm M, Tian G, Niersbach H, Maas WK, Fairman R, Carey J. The DNA-binding domain of the hexameric arginine repressor. J Mol Biol. 1995 Nov 24;254(2):150-62. PMID: 7490739 [PubMed - indexed for MEDLINE] 51: Garc?a-P?rez MA, Paz Briones PS, Garc?a-Mun?oz MJ, Rubio V. A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency. Hum Genet. 1995 Nov;96(5):549-51. PMID: 8530002 [PubMed - indexed for MEDLINE] 52: Michalak A, Qureshi IA. Free and esterified coenzyme A in the liver and muscles of chronically hyperammonemic mice treated with sodium benzoate. Biochem Mol Med. 1995 Apr;54(2):96-104. PMID: 8581365 [PubMed - indexed for MEDLINE] 53: Fujita R, Skolnick C, Pakstis AJ, Yang-Feng TL, Swaroop A. Dinucleotide polymorphism at the DXS1178 locus is tightly linked to PGK1 at Xq13. Hum Genet. 1995 Apr;95(4):467-8. PMID: 7705848 [PubMed - indexed for MEDLINE] 54: Oppliger Leibundgut EO, Liechti-Gallati S, Colombo JP, Wermuth B. Ornithine transcarbamylase deficiency: new sites with increased probability of mutation. Hum Genet. 1995 Feb;95(2):191-6. PMID: 7860066 [PubMed - indexed for MEDLINE] 55: Garc?a-P?rez MA, Sanjurjo P, Rubio V. Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity. Hum Genet. 1995 Feb;95(2):183-6. PMID: 7860064 [PubMed - indexed for MEDLINE] 56: Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. J Inherit Metab Dis. 1995;18(3):356-7. No abstract available. PMID: 7474905 [PubMed - indexed for MEDLINE] 57: Matsuura T, Hoshide R, Komaki S, Kiwaki K, Endo F, Nakamura S, Jitosho T, Matsuda I. Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency. J Inherit Metab Dis. 1995;18(3):273-82. PMID: 7474892 [PubMed - indexed for MEDLINE] 58: Lin BF, Shane B. Expression of Escherichia coli folylpolyglutamate synthetase in the Chinese hamster ovary cell mitochondrion. J Biol Chem. 1994 Apr 1;269(13):9705-13. PMID: 8144561 [PubMed - indexed for MEDLINE] 59: Penverne B, Belka?d M, Herv? G. In situ behavior of the pyrimidine pathway enzymes in Saccharomyces cerevisiae. 4. The channeling of carbamylphosphate to aspartate transcarbamylase and its partition in the pyrimidine and arginine pathways. Arch Biochem Biophys. 1994 Feb 15;309(1):85-93. PMID: 8117117 [PubMed - indexed for MEDLINE] 60: Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K, et al. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency. Hum Mutat. 1994;3(4):402-6. No abstract available. PMID: 8081398 [PubMed - indexed for MEDLINE] 61: Tuchman M, Plante RJ, Gigu?re Y, Lemieux B. The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism. Hum Mutat. 1994;3(3):318-20. No abstract available. PMID: 8019569 [PubMed - indexed for MEDLINE] 62: Reish O, Plante RJ, Tuchman M. Four new mutations in the ornithine transcarbamylase gene. Biochem Med Metab Biol. 1993 Oct;50(2):169-75. PMID: 8260194 [PubMed - indexed for MEDLINE] 63: Matsuura T, Hoshide R, Setoyama C, Shimada K, Hase Y, Yanagawa T, Kajita M, Matsuda I. Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected] Hum Genet. 1993 Aug;92(1):49-56. Erratum in: Hum Genet 1994 May;93(5):613. PMID: 8365726 [PubMed - indexed for MEDLINE] 64: Kimura A, Nishiyori A, Murakami T, Tsukamoto T, Hata S, Osumi T, Okamura R, Mori M, Takiguchi M. Chicken ovalbumin upstream promoter-transcription factor (COUP-TF) represses transcription from the promoter of the gene for ornithine transcarbamylase in a manner antagonistic to hepatocyte nuclear factor-4 (HNF-4). J Biol Chem. 1993 May 25;268(15):11125-33. PMID: 8496174 [PubMed - indexed for MEDLINE] 65: Tsai MY, Holzknecht RA, Tuchman M. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. Hum Genet. 1993 May;91(4):321-5. PMID: 8099056 [PubMed - indexed for MEDLINE] 66: Qureshi IA, Leblanc D, Cyr D, Gigu?re R, Mitchell G. Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. Biochem Biophys Res Commun. 1993 Mar 15;191(2):744-9. PMID: 8461026 [PubMed - indexed for MEDLINE] 67: Matsuura T, Hoshide R, Fukushima M, Sakiyama T, Owada M, Matsuda I. Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis. J Inherit Metab Dis. 1993;16(1):31-8. PMID: 8487501 [PubMed - indexed for MEDLINE] 68: Hoshide R, Matsuura T, Komaki S, Koike E, Ueno I, Matsuda I. Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency. J Inherit Metab Dis. 1993;16(5):857-62. No abstract available. PMID: 8295401 [PubMed - indexed for MEDLINE] 69: Matsuno F, Matsuzaki H, Akahoshi Y, Yoshida M, Hata H, Takiguchi M, Takatsuki K, Mori M. A novel ornithine transcarbamylase present in mycoplasma-infected myeloma cells. Enzyme Protein. 1993;47(2):57-64. PMID: 8193671 [PubMed - indexed for MEDLINE] 70: Marsden D, Sege-Petersen K, Nyhan WL, Roschinger W, Sweetman L. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. Am J Dis Child. 1992 Dec;146(12):1459-62. PMID: 1456259 [PubMed - indexed for MEDLINE] 71: Nagao M, Tanaka K. FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation. J Biol Chem. 1992 Sep 5;267(25):17925-32. PMID: 1517228 [PubMed - indexed for MEDLINE] 72: Suess PJ, Tsai MY, Holzknecht RA, Horowitz M, Tuchman M. Screening for gene deletions and known mutations in 13 patients with ornithine transcarbamylase deficiency. Biochem Med Metab Biol. 1992 Jun;47(3):250-9. PMID: 1627356 [PubMed - indexed for MEDLINE] 73: Ring E, Zobel G. [Hemofiltration in acute neonatal metabolic crisis] Wien Klin Wochenschr. 1992;104(21):674-7. German. PMID: 1475972 [PubMed - indexed for MEDLINE] 74: Kobayashi K, Horiuchi M, Yokokouji A, Shimada T, Saheki T. Simultaneous detection of mutant gene and transgene in ornithine carbamoyl-transferase-deficient spf-ash mice with rat OCT gene. J Inherit Metab Dis. 1992;15(5):792-6. No abstract available. PMID: 1434519 [PubMed - indexed for MEDLINE] 75: Strautnieks S, Rutland P, Malcolm S. Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. J Med Genet. 1991 Dec;28(12):871-4. PMID: 1757964 [PubMed - indexed for MEDLINE] 76: Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hum Genet. 1991 Dec;88(2):153-6. PMID: 1721894 [PubMed - indexed for MEDLINE] 77: Carstens RP, Fenton WA, Rosenberg LR. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. Am J Hum Genet. 1991 Jun;48(6):1105-14. PMID: 2035531 [PubMed - indexed for MEDLINE] 78: Ashworth A, Rastan S, Lovell-Badge R, Kay G. X-chromosome inactivation may explain the difference in viability of XO humans and mice. Nature. 1991 May 30;351(6325):406-8. PMID: 2034290 [PubMed - indexed for MEDLINE] 79: Petty EM, Carstens R, Bale AE. Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site. Nucleic Acids Res. 1991 Feb 11;19(3):690. No abstract available. PMID: 2011544 [PubMed - indexed for MEDLINE] 80: Grompe M, Caskey CT, Fenwick RG. Improved molecular diagnostics for ornithine transcarbamylase deficiency. Am J Hum Genet. 1991 Feb;48(2):212-22. PMID: 1671317 [PubMed - indexed for MEDLINE] 81: Liechti-Gallati S, Dionisi C, Bachmann C, Wermuth B, Colombo JP. Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency. Enzyme. 1991;45(1-2):81-91. PMID: 1806371 [PubMed - indexed for MEDLINE] 82: Matsuura T, Matsuda I. [DNA diagnosis of ornithine transcarbamylase deficiency by PCR method] Tanpakushitsu Kakusan Koso. 1990 Dec;35(17):3113-9. Japanese. No abstract available. PMID: 2287729 [PubMed - indexed for MEDLINE] 83: Finkelstein JE, Francomano CA, Brusilow SW, Traystman MD. Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. Genomics. 1990 Jun;7(2):167-72. PMID: 2347583 [PubMed - indexed for MEDLINE] 84: Wang TT, Farr?s J, Weiner H. Liver mitochondrial aldehyde dehydrogenase: in vitro expression, in vitro import, and effect of alcohols on import. Arch Biochem Biophys. 1989 Aug 1;272(2):440-9. PMID: 2751310 [PubMed - indexed for MEDLINE] 85: Grompe M, Muzny DM, Caskey CT. Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage. Proc Natl Acad Sci U S A. 1989 Aug;86(15):5888-92. PMID: 2474822 [PubMed - indexed for MEDLINE] 86: Rowe PC, Valle D, Brusilow SW. Inborn errors of metabolism in children referred with Reye's syndrome. A changing pattern. JAMA. 1988 Dec 2;260(21):3167-70. PMID: 3184395 [PubMed - indexed for MEDLINE] 87: Edmonds MS, Baker DH. Effects of fasting on tissue amino acid concentrations and urea-cycle enzymatic activities in young pigs. J Anim Sci. 1987 Dec;65(6):1538-52. PMID: 3443574 [PubMed - indexed for MEDLINE] 88: Lingelbach KR, Graf LJ, Dunn AR, Hoogenraad NJ. Effect of deletions within the leader peptide of pre-ornithine transcarbamylase on mitochondrial import. Eur J Biochem. 1986 Nov 17;161(1):19-23. PMID: 3780735 [PubMed - indexed for MEDLINE] 89: Eisenstein E, Hensley P. Ligand binding-promoted conformational changes in yeast ornithine transcarbamoylase. J Biol Chem. 1986 May 15;261(14):6192-200. PMID: 3516990 [PubMed - indexed for MEDLINE] 90: Mori M, Matsue H, Miura S, Tatibana M, Hashimoto T. Transport of proteins into mitochondrial matrix. Evidence suggesting a common pathway for 3-ketoacyl-CoA thiolase and enzymes having presequences. Eur J Biochem. 1985 May 15;149(1):181-6. PMID: 2859988 [PubMed - indexed for MEDLINE] 91: Eisenstein E, Osborne JC Jr, Chaiken IM, Hensley P. Purification and characterization of ornithine transcarbamoylase from Saccharomyces cerevisiae. J Biol Chem. 1984 Apr 25;259(8):5139-45. PMID: 6370999 [PubMed - indexed for MEDLINE] 92: Hewitt WR, Brown EM, Plaa GL. Relationship between the carbon skeleton length of ketonic solvents and potentiation of chloroform-induced hepatotoxicity in rats. Toxicol Lett. 1983 May;16(3-4):297-304. PMID: 6857725 [PubMed - indexed for MEDLINE] 93: Piepersberg W, Noseda V, B?ck A. Bacterial ribosomes with two ambiguity mutations: effects of translational fidelity, on the response to aminoglycosides and on the rate of protein synthesis. Mol Gen Genet. 1979 Mar 9;171(1):23-34. PMID: 108518 [PubMed - indexed for MEDLINE] 94: Krieger I, Bachmann C, Gronemeyer WH, Cejka J. Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. J Clin Endocrinol Metab. 1976 Oct;43(4):796-802. PMID: 977722 [PubMed - indexed for MEDLINE] 95: Sinatra F, Yoshida T, Applebaum M, Masion Hoogenraad NJ, Sunshine P. Abnormalities of carbamyl phosphate synthetase and ornithine transcarbamylase in liver of patients with Reye's syndrome. Pediatr Res. 1975 Nov;9(11):829-33. PMID: 171618 [PubMed - indexed for MEDLINE]