{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T06:12:15Z","timestamp":1779343935693,"version":"3.51.4"},"publisher-location":"Berlin, Heidelberg","reference-count":236,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"value":"9783540117018","type":"print"},{"value":"9783540394693","type":"electronic"}],"license":[{"start":{"date-parts":[[1987,1,1]],"date-time":"1987-01-01T00:00:00Z","timestamp":536457600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1987]]},"DOI":"10.1007\/bfb0034071","type":"book-chapter","created":{"date-parts":[[2005,12,11]],"date-time":"2005-12-11T04:17:40Z","timestamp":1134274660000},"page":"21-68","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches"],"prefix":"10.1007","author":[{"given":"Takeyori","family":"Saheki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiko","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ituro","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,6,21]]},"reference":[{"key":"2_CR1","doi-asserted-by":"crossref","first-page":"13471","DOI":"10.1016\/S0021-9258(18)90718-0","volume":"259","author":"MW Adcock","year":"1984","unstructured":"Adcock MW, O'Brien WE (1984) Molecular cloning of cDNA for rat and human carbamyl phosphate synthetase I. J Biol Chem 259:13471\u201313476","journal-title":"J Biol Chem"},{"key":"2_CR2","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/BF02391191","volume":"6","author":"I Akaboshi","year":"1983","unstructured":"Akaboshi I, Endo F, Matsuda I, Saheki T (1983) Kinetic analysis of argininosuccinate synthetase in a variant form of citrullinemia. J Inherited Metab Dis 6:36\u201339","journal-title":"J Inherited Metab Dis"},{"key":"2_CR3","unstructured":"Akaboshi I, Endo F, Hayashida S, Matsuda I (submitted) A case of argininosuccinic aciduria (in Japanese). J Jpn Pediatr Soc"},{"key":"2_CR4","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1016\/S0140-6736(58)90666-4","volume":"i","author":"JD Allan","year":"1958","unstructured":"Allan JD, Cusworth DC, Dent CE, Wilson VK (1958) A disease, probably hereditary, characterised by severe mental deficiency and a constant gross abnormality of amino acid metabolism. Lancet i:182\u2013187","journal-title":"Lancet"},{"key":"2_CR5","first-page":"433","volume":"13","author":"Y Amaya","year":"1986","unstructured":"Amaya Y, Kawamoto S, Oda T, Kusumi T, Saheki T, Kimura S, Mori M (1986) Molecular cloning of cDNA for argininosuccinate lyase of rat liver. Biochem Int 13:433\u2013438","journal-title":"Biochem Int"},{"key":"2_CR6","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1620\/tjem.107.143","volume":"107","author":"S Arashima","year":"1972","unstructured":"Arashima S, Matsuda I (1972) A case of carbamyl phosphate synthetase deficiency. Tohoku J Exp Med 107:143\u2013147","journal-title":"Tohoku J Exp Med"},{"key":"2_CR7","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/0006-291X(85)91801-7","volume":"131","author":"C Argan","year":"1985","unstructured":"Argan C, Shore GC (1985) The precursor to ornithine carbamoyltransferase is transported to mitochondria as a 5 S complex containing an import factor. Biochem Biophys Res Commun 131:289\u2013298","journal-title":"Biochem Biophys Res Commun"},{"key":"2_CR8","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1542\/peds.39.4.546","volume":"39","author":"MD Armstrong","year":"1967","unstructured":"Armstrong MD, Robinow M (1967) A case of hyperlysinemia: biochemical and clinical observations. Pediatrics 39:546\u2013554","journal-title":"Pediatrics"},{"key":"2_CR9","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1007\/BF01846026","volume":"134","author":"C Bachmann","year":"1980","unstructured":"Bachmann C, Colombo JP (1980) Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias. Eur J Pediatr 134:109\u2013113","journal-title":"Eur J Pediatr"},{"key":"2_CR10","doi-asserted-by":"publisher","first-page":"2417","DOI":"10.1016\/0024-3205(83)90635-5","volume":"33","author":"C Bachmann","year":"1983","unstructured":"Bachmann C, Colombo JP (1983) Increased tryptophan uptake into the brain in hyperammonemia. Life Sci 33:2417\u20132424","journal-title":"Life Sci"},{"key":"2_CR11","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1203\/00006450-198404000-00014","volume":"18","author":"C Bachmann","year":"1984","unstructured":"Bachmann C, Colombo JP (1984) Increase of tryptophan and 5-hydroxyindole acetic acid in the brain of ornithine carbamoyltransferase deficient sparse-fur mice. Pediatr Res 18:372\u2013375","journal-title":"Pediatr Res"},{"key":"2_CR12","first-page":"543","volume":"304","author":"C Bachmann","year":"1981","unstructured":"Bachmann C, Krahenbuhl S, Colombo JP, Schubiger G, Jaggi KH, Tonz O (1981) N-Acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. N Engl J Med 304:543\u2013544","journal-title":"N Engl J Med"},{"key":"2_CR13","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1042\/bj2050123","volume":"205","author":"C Bachmann","year":"1982","unstructured":"Bachmann C, Krahenbuhl S, Colombo JP (1982) Purification and properties of acetyl-CoA:L-glutamate N-acetyltransferase from human liver. Biochem J 205:123\u2013127","journal-title":"Biochem J"},{"key":"2_CR14","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/0926-6593(66)90151-2","volume":"128","author":"L Bascur","year":"1966","unstructured":"Bascur L, Cabello J, Veliz M, Gonzalez A (1966) Molecular forms of human-liver arginase. Biochim Biophys Acta 128:149\u2013154","journal-title":"Biochim Biophys Acta"},{"key":"2_CR15","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/978-1-4615-8356-1_3","volume-title":"Advances in human genetics vol 15","author":"AL Beaudet","year":"1986","unstructured":"Beaudet AL, O'Brien WE, Bock HGO, Freytag SO, Su TS (1986) The human arginino-succinate synthetase locus and citrullinemia. In: Harris H, Hirschhorn K (eds) Advances in human genetics vol 15. Plenum, New York, pp 161\u2013196"},{"key":"2_CR16","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/S0022-3476(86)80891-5","volume":"108","author":"J Bernar","year":"1986","unstructured":"Bernar J, Hanson RA, Kern R, Phoenix B, Shaw KNF, Cederbaum SD (1986) Arginase deficiency in a 12-year-old boy with mild impairment of intellectual function. J Pediatr 108:432\u2013435","journal-title":"J Pediatr"},{"key":"2_CR17","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1042\/bj1750449","volume":"174","author":"J Ber\u00fcter","year":"1978","unstructured":"Ber\u00fcter J, Colombo JP, Bachmann C (1978) Purification and properties of arginase from human liver and erythrocytes. Biochem J 174:449\u2013454","journal-title":"Biochem J"},{"key":"2_CR18","doi-asserted-by":"crossref","first-page":"6505","DOI":"10.1093\/nar\/11.18.6505","volume":"11","author":"HGO Bock","year":"1983","unstructured":"Bock HGO, Su TS, O'Brien WE, Beaudet AL (1983) Sequence for human arginino-succinate synthetase cDNA. Nucleic Acids Res 11:6505\u20136512","journal-title":"Nucleic Acids Res"},{"key":"2_CR19","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1016\/0014-5793(80)80612-0","volume":"113","author":"NM Bradford","year":"1980","unstructured":"Bradford NM, McGivan JD (1980) Evidence for the existence of an ornithine\/citrulline antiporter in rat liver mitochondria. FEBS Lett 113:294\u2013298","journal-title":"FEBS Lett"},{"key":"2_CR20","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1016\/0003-9861(71)90158-5","volume":"146","author":"RC Bray","year":"1971","unstructured":"Bray RC, Ratner S (1971) Argininosuccinase from bovine kidney: Comparison of catalytic, physical, and chemical properties with the enzyme from bovine liver. Arch Biochem Biophys 146:531\u2013541","journal-title":"Arch Biochem Biophys"},{"key":"2_CR21","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/0014-5793(81)80666-7","volume":"130","author":"P Briand","year":"1981","unstructured":"Briand P, Cathelineau L, Kamoun P, Gigot D, Penninckx M (1981) Increase of ornithine transcarbamylase protein in sparse-fur mice with ornithine transcarbamylase deficiency. FEBS Lett 130:65\u201368","journal-title":"FEBS Lett"},{"key":"2_CR22","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/0167-4838(82)90136-4","volume":"704","author":"P Briand","year":"1982","unstructured":"Briand P, Francois B, Rabier D, Cathelineau L (1982) Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification. Biochim Biophys Acta 704:100\u2013106","journal-title":"Biochim Biophys Acta"},{"key":"2_CR23","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/0304-4165(83)90379-3","volume":"760","author":"P Briand","year":"1983","unstructured":"Briand P, Miura S, Mori M, Cathelineau L, Kamoun P, Tatibana M (1983) Cell-free synthesis and transport of precursors of mutant ornithine carbamoyltransferases into mitochondria. Biochim Biophys Acta 760:389\u2013397","journal-title":"Biochim Biophys Acta"},{"key":"2_CR24","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0304-4165(85)90164-3","volume":"840","author":"M Brusdeilins","year":"1985","unstructured":"Brusdeilins M, Kuhner R, Schumacher K (1985) Purification, affinity to anti-human arginase immunoglobulin-Sepharose 4B and subunit molecular weights of mammalian arginases. Biochim Biophys Acta 840:79\u201390","journal-title":"Biochim Biophys Acta"},{"key":"2_CR25","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1016\/0014-5793(76)80998-2","volume":"72","author":"J Bryla","year":"1976","unstructured":"Bryla J, Harris EJ (1976) Accumulation of ornithine and citrulline in rat liver mitochondria in relation to citrulline formation. FEBS Lett 72:331\u2013336","journal-title":"FEBS Lett"},{"key":"2_CR26","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/S0022-3476(74)80394-X","volume":"85","author":"NRM Buist","year":"1974","unstructured":"Buist NRM, Kennaway NG, Hepburn CA, Strandholm JJ, Ramberg DA (1974) Citrullinemia: investigation and treatment over a four-year period. J Pediatr 85:208\u2013214","journal-title":"J Pediatr"},{"key":"2_CR27","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1159\/000130793","volume":"19","author":"B Carritt","year":"1977","unstructured":"Carritt B (1977) Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9. Cytogenet Cell Genet 19:44\u201348","journal-title":"Cytogenet Cell Genet"},{"key":"2_CR28","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1038\/218679a0","volume":"218","author":"NAJ Carson","year":"1968","unstructured":"Carson NAJ, Scally BG, Neill DW, Carr\u00e9 IJ (1968) Saccharopinuria: a new inborn error of lysine metabolism. Nature 218:679","journal-title":"Nature"},{"key":"2_CR29","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1159\/000469447","volume":"32","author":"AL Carter","year":"1984","unstructured":"Carter AL, Eller AG, Rufo S, Metoki K, Hommes FA (1984) Further evidence for a separate enzymic entity for the synthesis of homocitrulline, distinct from the regular ornithine transcarbamylase. Enzyme 32:26\u201336","journal-title":"Enzyme"},{"key":"2_CR30","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1111\/j.1651-2227.1969.tb04755.x","volume":"58","author":"D Carton","year":"1969","unstructured":"Carton D, De Schrijver F, Kint J, Van Durme J, Hooft C (1969) Case report. Argininosuccinic aciduria. Neonatal variant with rapid fatal course. Acta Paediatr Scand 58:528\u2013534","journal-title":"Acta Paediatr Scand"},{"key":"2_CR31","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/0167-4838(86)90219-0","volume":"870","author":"N Carvajal","year":"1986","unstructured":"Carvajal N, Cederbaum SD (1986) Kinetics of inhibition of rat liver and kidney arginases by proline and branched-chain amino acids. Biochim Biophys Acta 870:181\u2013184","journal-title":"Biochim Biophys Acta"},{"key":"2_CR32","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/0005-2744(71)90200-2","volume":"250","author":"N Carvajal","year":"1971","unstructured":"Carvajal N, Venegas A, Oestreicher G, Plaza M (1971) Effect of manganese on the quaternary structure of human liver arginase. Biochim Biophys Acta 250:437\u2013442","journal-title":"Biochim Biophys Acta"},{"key":"2_CR33","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1016\/0006-291X(79)91628-0","volume":"90","author":"L Cathelineau","year":"1979","unstructured":"Cathelineau L, Petit FP, Coude FX, Kamoun PP (1979) Effect of propionate and pyruvate on citrulline synthesis and ATP content in rat liver mitochondria. Biochem Biophys Res Commun 90:327\u2013332","journal-title":"Biochem Biophys Res Commun"},{"key":"2_CR34","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/0009-8981(81)90175-3","volume":"116","author":"L Cathelineau","year":"1981","unstructured":"Cathelineau L, Dinh DP, Boue J, Saudubray JM, Farriaux JP, Kamoun P (1981a) Improved method for the antenatal diagnosis of citrullinemia. Clin Chim Acta 116:111\u2013115","journal-title":"Clin Chim Acta"},{"key":"2_CR35","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1007\/BF00278945","volume":"57","author":"L Cathelineau","year":"1981","unstructured":"Cathelineau L, Dinh DP, Briand P, Kamoun P (1981b) Studies on complementation in argininosuccinate synthetase and argininosuccinate lyase deficiencies in human fibroblasts. Hum Genet 57:282\u2013284","journal-title":"Hum Genet"},{"key":"2_CR36","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S0022-3476(79)80657-5","volume":"95","author":"SD Cederbaum","year":"1979","unstructured":"Cederbaum SD, Shaw KNF, Dancis J, Hutzler J, Blaskovics JC (1979a) Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. J Pediatr 95:234\u2013238","journal-title":"J Pediatr"},{"key":"2_CR37","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1203\/00006450-197907000-00007","volume":"13","author":"SD Cederbaum","year":"1979","unstructured":"Cederbaum SD, Shaw KNF, Spector EB, Verity MA, Snodgrass PJ, Sugarman GI (1979b) Hyperargininemia with arginase deficiency. Pediatr Res 13:827\u2013833","journal-title":"Pediatr Res"},{"key":"2_CR38","doi-asserted-by":"crossref","first-page":"354","DOI":"10.3181\/00379727-163-40777","volume":"163","author":"PC Chen","year":"1980","unstructured":"Chen PC, Broome JD (1980) Mouse macrophage arginase (40777). Proc Soc Exp Biol Med 163:354\u2013359","journal-title":"Proc Soc Exp Biol Med"},{"key":"2_CR39","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/BF02312528","volume":"3","author":"E Christensen","year":"1980","unstructured":"Christensen E, Brandt NJ, Philip J, Kennaway NG (1980) Citrullinaemia: the possibility of prenatal diagnosis. J Inherited Metab Dis 3:73\u201375","journal-title":"J Inherited Metab Dis"},{"key":"2_CR40","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/pd.1970050410","volume":"5","author":"E Christensen","year":"1985","unstructured":"Christensen E, Brandt NJ, Philip J, Bang J, (1985) Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi. Prenat Diagn 5:299\u2013301","journal-title":"Prenat Diagn"},{"key":"2_CR41","doi-asserted-by":"crossref","first-page":"5724","DOI":"10.1073\/pnas.76.11.5724","volume":"76","author":"JG Conboy","year":"1979","unstructured":"Conboy JG, Kalousek F, Rosenberg LE (1979) In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamylase. Proc Natl Acad Sci USA 76:5724\u20135727","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR42","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1073\/pnas.58.6.2299","volume":"58","author":"C Corredor","year":"1967","unstructured":"Corredor C, Brendel K, Bressler R (1967) Studies on the mechanism of the hypoglycemic action of 4-pentenoic acid. Proc Natl Acad Sci USA 58:2299\u20132306","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR43","doi-asserted-by":"crossref","first-page":"1544","DOI":"10.1172\/JCI109614","volume":"64","author":"FX Coude","year":"1979","unstructured":"Coude FX, Sweetman L, Nyhan WL (1979) Inhibition by propionyl-Coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest 64:1544\u20131551","journal-title":"J Clin Invest"},{"key":"2_CR44","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1542\/peds.68.6.914a","volume":"68","author":"FX Coude","year":"1981","unstructured":"Coude FX, Ogier H, Marsac C, Munnich A, Charpentier C, Saudubray JM (1981) Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. Pediatrics 68:914","journal-title":"Pediatrics"},{"key":"2_CR45","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1542\/peds.69.1.115","volume":"69","author":"FX Coude","year":"1982","unstructured":"Coude FX, Ogier H, Grimber G, Parvy Ph, Pham Dihn D, Charpentier C, Saudubray JM (1982) Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. Pediatrics 69:115\u2013117","journal-title":"Pediatrics"},{"key":"2_CR46","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0304-4165(83)90356-2","volume":"761","author":"FX Coude","year":"1983","unstructured":"Coude FX, Grimber G, Parvy P, Rabier D (1983) Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes. Biochim Biophys Acta 761:13\u201316","journal-title":"Biochim Biophys Acta"},{"key":"2_CR47","doi-asserted-by":"publisher","first-page":"882","DOI":"10.1016\/0006-291X(84)91040-4","volume":"124","author":"CJ Groot De","year":"1984","unstructured":"De Groot CJ, van Zonneveld AJ, Mooren PG, Zonneveld D, van den Dool A, van den Bogaert AJW, Lamers WH, Moorman AFM, Charles R (1984) Regulation of mRNA levels of rat liver carbamoylphosphate synthetase by glucocorticoids and cyclic AMP as estimated with a specific cDNA. Biochem Biophys Res Commun 124:882\u2013888","journal-title":"Biochem Biophys Res Commun"},{"key":"2_CR48","first-page":"235","volume":"37","author":"B Martinville De","year":"1985","unstructured":"De Martinville B, Kunkel LM, Bruns G, Morl\u00e9 F, Koenig M, Mandel JL, Horwich A, Latt SA, Gusella JF, Housman D, Francke U (1985) Localization of DNA sequences in region Xp21 of the human X chromosome: Search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet 37:235\u2013249","journal-title":"Am J Hum Genet"},{"key":"2_CR49","doi-asserted-by":"crossref","first-page":"1382","DOI":"10.1172\/JCI109802","volume":"65","author":"J-F Desjeux","year":"1980","unstructured":"Desjeux J-F, Rajantie J, Simell O, Dumontier A-M, Perheentupa J (1980) Lysine fluxes across the jejunal epithelium in lysinuric protein intolerance. J Clin Invest 65:1382\u20131387","journal-title":"J Clin Invest"},{"key":"2_CR50","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/S0021-9258(17)43514-9","volume":"259","author":"M Devaney","year":"1984","unstructured":"Devaney M, Powers-Lee SG (1984) Immunological cross-reactivity between carbamyl phosphate synthetases I, II, and III. J Biol Chem 259:703\u2013706","journal-title":"J Biol Chem"},{"key":"2_CR51","first-page":"135S","volume":"36","author":"GJ Dizikes","year":"1984","unstructured":"Dizikes GJ, Cederbaum SD (1984) Isolation and characterization of cDNA clones for rat liver arginase. Am J Hum Genet 36:135S","journal-title":"Am J Hum Genet"},{"key":"2_CR52","first-page":"A152","volume":"37","author":"GJ Dizikes","year":"1985","unstructured":"Dizikes GJ, Grody WW, Kern RM, Cederbaum SD (1985) Isolation and study of cDNA clones for human liver arginase. Am J Hum Genet 37:A152","journal-title":"Am J Hum Genet"},{"key":"2_CR53","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1007\/BF01805610","volume":"7","author":"W Endres","year":"1984","unstructured":"Endres W, Schaller R, Shin YS (1984) Diagnosis and treatment of argininaemia. Characteristics of arginase in human erythrocytes and tissues. J Inherited Metab Dis 7:8","journal-title":"J Inherited Metab Dis"},{"key":"2_CR54","first-page":"26","volume":"76","author":"JP Farriaux","year":"1976","unstructured":"Farriaux JP, Dhondt JL, Formstecher P, Martin JJ, Pollitt RJ, Kint J, Lagrou A, Mardens Y, Fontaine G (1976) Pathological and biochemical studies on a neonatal case of argininosuccinic aciduria. Acta Neurol Belg 76:26\u201334","journal-title":"Acta Neurol Belg"},{"key":"2_CR55","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1007\/BF00273443","volume":"70","author":"ER Fearon","year":"1985","unstructured":"Fearon ER, Mallonee RL, Phillips AP III, O'Brien WE, Brusilow SW, Adcock MW, Kirby LT (1985) Genetic analysis of carbamyl phosphate synthetase I deficiency. Hum Genet 70:207\u2013210","journal-title":"Hum Genet"},{"key":"2_CR56","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1001\/archpedi.1974.02110240138023","volume":"127","author":"V Fell","year":"1974","unstructured":"Fell V, Pollitt RJ, Sampson GA, Wright T (1974) Ornithinemia, hyperammonemia, and homocitrullinuria. A disease associated with mental retardation and possibly caused by defective mitochondrial transport. Am J Dis Child 127:752\u2013756","journal-title":"Am J Dis Child"},{"key":"2_CR57","first-page":"85","volume":"35","author":"LD Fleisher","year":"1983","unstructured":"Fleisher LD, Harris CJ, Mitchell DA, Nadler HL (1983) Citrullinemia: prenatal diagnosis of an affected fetus. Am J Hum Genet 35:85\u201390","journal-title":"Am J Hum Genet"},{"key":"2_CR58","first-page":"3","volume-title":"Recombinant DNA applications to human disease","author":"BG Forget","year":"1983","unstructured":"Forget BG, Benz EJ, Weisman SM (1983) Normal human globin gene structure and mutations causing the \u03b2-thalassemia syndromes. In: Caskey CT, White RL (eds) Recombinant DNA applications to human disease. Cold Spring Harbor Laboratory, New York, pp 3\u201317 (Banbury reports vol 14)"},{"key":"2_CR59","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1001\/archneur.1970.00480290050006","volume":"23","author":"JM Freeman","year":"1970","unstructured":"Freeman JM, Nicholson JF, Schimke RT, Rowland LP, Carter S (1970) Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamylphosphate synthetase. Arch Neurol 23:430\u2013437","journal-title":"Arch Neurol"},{"key":"2_CR60","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1128\/MCB.4.10.1978","volume":"4","author":"SO Freytag","year":"1984","unstructured":"Freytag SO, Beaudet AL, Bock HGO, O'Brien WE (1984a) Molecular structure of the human argininosuccinate synthetase gene: Occurrence of alternative mRNA splicing. Mol Cell Biol 4:1978\u20131984","journal-title":"Mol Cell Biol"},{"key":"2_CR61","doi-asserted-by":"crossref","first-page":"3160","DOI":"10.1016\/S0021-9258(17)43275-3","volume":"259","author":"SO Freytag","year":"1984","unstructured":"Freytag SO, Bock HGO, Beaudet AL, O'Brien WE (1984b) Molecular structures of human argininosuccinate synthetase pseudogenes: evolutionary and mechanistic implications. J Biol Chem 259:3160\u20133166","journal-title":"J Biol Chem"},{"key":"2_CR62","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1093\/oxfordjournals.jbchem.a133326","volume":"89","author":"M Funahashi","year":"1981","unstructured":"Funahashi M, Kato H, Shiosaka S, Nakagawa H (1981) Formation of arginine and guanidinoacetic acid in the kidney in vivo. Their relations with the liver and their regulation. J Biochem 89:1347\u20131356","journal-title":"J Biochem"},{"key":"2_CR63","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1042\/bst0090279","volume":"9","author":"JW Gaasbeek Janzen","year":"1981","unstructured":"Gaasbeek Janzen JW, Moorman AFM, Lamers WH, Los JA, Charles R (1981) The localization of carbamyl-phosphate synthase in adult rat liver. Biochem Soc Trans 9:279","journal-title":"Biochem Soc Trans"},{"key":"2_CR64","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/S0021-9258(19)44416-5","volume":"248","author":"JG Gamble","year":"1973","unstructured":"Gamble JG, Lehninger AL (1973) Transport of ornithine and citrulline across the mitochondrial membrane. J Biol Chem 248:610\u2013618","journal-title":"J Biol Chem"},{"key":"2_CR65","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1203\/00006450-197505000-00006","volume":"9","author":"PD Gatfield","year":"1975","unstructured":"Gatfield PD, Taller E, Wolfe DM, Haust MD (1975) Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity. Pediatr Res 9:488\u2013497","journal-title":"Pediatr Res"},{"key":"2_CR66","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1002\/j.1460-2075.1983.tb01464.x","volume":"2","author":"R Gebhardt","year":"1983","unstructured":"Gebhardt R, Mecke D (1983) Heterogeneous distribution of glutamine synthetase among rat liver parenchymal cells in situ and in primary culture. EMBO J 2:567\u2013570","journal-title":"EMBO J"},{"key":"2_CR67","first-page":"22","volume":"28","author":"NR Glick","year":"1976","unstructured":"Glick NR, Snodgrass PJ, Schafer IA (1976) Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum Genet 28:22\u201330","journal-title":"Am J Hum Genet"},{"key":"2_CR68","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1126\/science.182.4107.62","volume":"182","author":"S Goldfischer","year":"1973","unstructured":"Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valsamis MP, Wisniewski HK, Ritch RH, Norton WT, Rapin I, Gartner LM (1973) Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 182:62\u201364","journal-title":"Science"},{"key":"2_CR69","unstructured":"Goto Y, Habara S, Nagai H, Kida K, Matsuda H (1983) Sibling case with carbamylphosphate synthetase deficiency (in Japanese). Abstract of Japanese Society for Inherited Metabolic Disease, pp 40\u201341"},{"key":"2_CR70","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/0009-8981(82)90001-8","volume":"118","author":"RGF Gray","year":"1982","unstructured":"Gray RGF, Hill SE, Pollitt RJ (1982) Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria. Clin Chim Acta 118:141\u2013148","journal-title":"Clin Chim Acta"},{"key":"2_CR71","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/BF01810368","volume":"6","author":"RGF Gray","year":"1983","unstructured":"Gray RGF, Hill SE, Pollitt RJ (1983) Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria. J Inherited Metab Dis 6:143\u2013148","journal-title":"J Inherited Metab Dis"},{"key":"2_CR72","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1016\/0003-9861(56)90143-6","volume":"62","author":"DM Greenberg","year":"1956","unstructured":"Greenberg DM, Bagot AE, Roholt OA (1956) Liver arginase. III Properties of highly purified arginase. Arch Biochem Biophys 62:446\u2013453","journal-title":"Arch Biochem Biophys"},{"key":"2_CR73","volume-title":"The urea cycle","year":"1976","unstructured":"Grisolia S, Baguena R, Mayor F (eds) (1976). The urea cycle. Wiley, New York"},{"key":"2_CR74","first-page":"475","volume":"13","author":"JA Gruskay","year":"1979","unstructured":"Gruskay JA, Rosenberg LE (1979) Inhibition of hepatic mitochondrial carbamylphosphate synthetase (CPSI) by acyl CoA esters: possible mechanism of hyperammonemia in the organic acidemias. Pediatr Res 13:475","journal-title":"Pediatr Res"},{"key":"2_CR75","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1111\/j.1432-1033.1968.tb19582.x","volume":"7","author":"G Guth\u00f6hrlein","year":"1968","unstructured":"Guth\u00f6hrlein G, Knappe J (1968) Structure and function of carbamoylphosphate synthetase. 1. Transitions between two catalytically inactive forms and the active form. Eur J Biochem 7:119\u2013127","journal-title":"Eur J Biochem"},{"key":"2_CR76","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1093\/oxfordjournals.jbchem.a121764","volume":"100","author":"A Hata","year":"1986","unstructured":"Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I (1986) Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5\u2032-end region. J Biochem 100:717\u2013729","journal-title":"J Biochem"},{"key":"2_CR77","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1111\/j.1432-1033.1983.tb07458.x","volume":"133","author":"D H\u00e4ussinger","year":"1983","unstructured":"H\u00e4ussinger D (1983) Hepatocyte heterogeneity in glutamine and ammonia metabolism and the role of an intercellular glutamine cycle during ureogenesis in perfused rat liver. Eur J Biochem 133:269\u2013275","journal-title":"Eur J Biochem"},{"key":"2_CR78","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/S0046-8177(81)80121-9","volume":"12","author":"MD Haust","year":"1981","unstructured":"Haust MD, Gatfield PD, Gordon BA (1981) Ultrastructure of hepatic mitochondria in a child with hyperornithinemia, hyperammonemia and homocitrullinuria. Hum Pathol 12:212\u2013213","journal-title":"Hum Pathol"},{"key":"2_CR79","doi-asserted-by":"crossref","first-page":"3079","DOI":"10.1016\/S0021-9258(18)97289-3","volume":"240","author":"EA Havir","year":"1965","unstructured":"Havir EA, Tamir H, Ratner S, Warner RC (1965) Biosynthesis of urea. XI. Preparation and properties of crystalline argininosuccinase. J Biol Chem 240:3079\u20133088","journal-title":"J Biol Chem"},{"key":"2_CR80","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1042\/bj1530469","volume":"153","author":"A Herzfeld","year":"1976","unstructured":"Herzfeld A, Raper SM (1976) The heterogeneity of arginases in rat tissues. Biochem J 153:469\u2013478","journal-title":"Biochem J"},{"key":"2_CR81","doi-asserted-by":"crossref","first-page":"6123","DOI":"10.1016\/S0021-9258(18)94469-8","volume":"243","author":"H Hirsch-Kolb","year":"1968","unstructured":"Hirsch-Kolb H, Greenberg DM (1968) Molecular characteristics of rat liver arginase. J Biol Chem 243:6123\u20136129","journal-title":"J Biol Chem"},{"key":"2_CR82","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1042\/bj1360157","volume":"136","author":"PC Holland","year":"1973","unstructured":"Holland PC, Sherratt HSA (1973) Biochemical effects of the hypoglycaemic compound pent-4-enoic acid and related non-hypoglycaemic fatty acids. Biochem J 136:157\u2013171","journal-title":"Biochem J"},{"key":"2_CR83","first-page":"320","volume":"36","author":"W Holzgreve","year":"1984","unstructured":"Holzgreve W, Golbus MS (1984) Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy. Am J Hum Genet 36:320\u2013328","journal-title":"Am J Hum Genet"},{"key":"2_CR84","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1007\/BF01799753","volume":"5","author":"FA Hommes","year":"1982","unstructured":"Hommes FA, Ho CK, Roesel RA, Coryell ME, Gordon BA (1982) Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia. J Inherited Metab Dis 5:41\u201347","journal-title":"J Inherited Metab Dis"},{"key":"2_CR85","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1159\/000469647","volume":"29","author":"FA Hommes","year":"1983","unstructured":"Hommes FA, Eller AG, Scott DF, Carter AL (1983a) Separation of ornithine and lysine activities of the ornithine-transcarbamylase-catalyzed reaction. Enzyme 29:271\u2013277","journal-title":"Enzyme"},{"key":"2_CR86","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1016\/0006-2944(83)90022-4","volume":"30","author":"FA Hommes","year":"1983","unstructured":"Hommes FA, Kitchings L, Eller AG (1983b) The uptake of ornithine and lysine by rat liver mitochondria. Biochem Med 30:313\u2013321","journal-title":"Biochem Med"},{"key":"2_CR87","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/0003-2697(80)90045-7","volume":"101","author":"NJ Hoogenraad","year":"1980","unstructured":"Hoogenraad NJ, Sutherland TM, Howlett GJ (1980) Purification of ornithine transcarbamylase from rat liver by affinity chromatography with immobilized transition-state analog. Anal Biochem 101:97\u2013102","journal-title":"Anal Biochem"},{"key":"2_CR88","doi-asserted-by":"crossref","first-page":"4258","DOI":"10.1073\/pnas.80.14.4258","volume":"80","author":"AL Horwich","year":"1983","unstructured":"Horwich AL, Kraus JP, Williams K, Kalousek F, Koningsberg W, Rosenberg LE (1983) Molecular cloning of the cDNA for rat ornithine transcarbamylase. Proc Natl Acad Sci USA 80:4258\u20134262","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR89","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1126\/science.6372096","volume":"224","author":"AL Horwich","year":"1984","unstructured":"Horwich AL, Fenton WA, Williams KR, Kalousek F, Kraus JP, Doolittle RF, Koningsberg W, Rosenberg LE (1984) Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. Science 224:1068\u20131074","journal-title":"Science"},{"key":"2_CR90","doi-asserted-by":"crossref","first-page":"4930","DOI":"10.1073\/pnas.82.15.4930","volume":"82","author":"AL Horwich","year":"1985","unstructured":"Horwich AL, Kalousek F, Rosenberg LE (1985) Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor. Proc Natl Acad Sci USA 82:4930\u20134933","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR91","first-page":"851","volume":"90","author":"N Igarashi","year":"1986","unstructured":"Igarashi N, Kubo M, Ohki T, Suzuki Y, Okabe I (1986) An infantile case of Zellweger syndrome with deficiencies of peroxisomal \u03b2-oxidation enzymes (in Japanese). J Jpn Pediatr Soc 90:851\u2013859","journal-title":"J Jpn Pediatr Soc"},{"key":"2_CR92","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/0009-8981(87)90071-4","volume":"164","author":"Y Imamura","year":"1987","unstructured":"Imamura Y, Kobayashi K, Yamashita T, Saheki T, Ichiki H, Hashida S, Ishikawa E (1987) Clinical application of enzyme immunoassay in the analysis of citrullinemia. Clin Chim Acta 164:201\u2013208","journal-title":"Clin Chim Acta"},{"key":"2_CR93","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/0009-8981(81)90162-5","volume":"116","author":"LB Jacoby","year":"1981","unstructured":"Jacoby LB, Shih VE, Struckmeyer C, Niermeijer MF, Boue J (1981) Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia. Clin Chim Acta 116:1\u20137","journal-title":"Clin Chim Acta"},{"key":"2_CR94","doi-asserted-by":"publisher","first-page":"772","DOI":"10.1016\/S0140-6736(79)92119-6","volume":"2","author":"JH James","year":"1979","unstructured":"James JH, Ziparo V, Jeppsson B, Fischer JE (1979) Hyperammonaemia, plasma aminoacid imbalance, and blood-brain amino acid transport: a unified theory of portal-systemic encephalopathy. Lancet 2:772\u2013775","journal-title":"Lancet"},{"key":"2_CR95","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/BF01801773","volume":"7","author":"Y Jinno","year":"1984","unstructured":"Jinno Y, Nomiyama H, Wakasugi S, Shimada K, Matsuda I, Saheki T (1984) Isolation and characterization of phage clones carrying the human argininosuccinate synthetase-like genes. J Inherited Metab Dis 7:133\u2013134","journal-title":"J Inherited Metab Dis"},{"key":"2_CR96","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1093\/oxfordjournals.jbchem.a135407","volume":"98","author":"Y Jinno","year":"1985","unstructured":"Jinno Y, Matuo S, Nomiyama H, Shimada K, Matsuda I (1985) Novel structure of the 5\u2032 end region of the human argininosuccinate synthetase. J Biochem 98:1395\u20131403","journal-title":"J Biochem"},{"key":"2_CR97","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/BF01799674","volume":"9","author":"Y Jinno","year":"1986","unstructured":"Jinno Y, Niikawa N, Shimada K, Matsuda I (1986) Restriction fragment length polymorphisms in the 5\u2032 end region of the human argininosuccinate synthetase gene. J Inherited Metab Dis 9:317\u2013320","journal-title":"J Inherited Metab Dis"},{"key":"2_CR98","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/0022-4804(84)90110-0","volume":"36","author":"T Jonung","year":"1984","unstructured":"Jonung T, Rigotti P, Jeppsson B, James JH, Peters JC, Fischer JE (1984) Methionine sulfoximine prevents the accumulation of large neutral amino acids in brain of hyperammonemic rats. J Surg Res 36:349\u2013353","journal-title":"J Surg Res"},{"key":"2_CR99","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1111\/j.1442-200X.1984.tb02182.x","volume":"26","author":"H Kakinuma","year":"1984","unstructured":"Kakinuma H, Ohtake A, Ogura N, Takayanagi M, Nakajima H, Nishioka T, Matsuura Y, Takeuchi Y, Asanuma K (1984) Two siblings with complete carbamyl phosphate synthetase I deficiency. Acta Paediatr Jpn 26:16\u201319","journal-title":"Acta Paediatr Jpn"},{"key":"2_CR100","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1016\/S0021-9258(17)34781-6","volume":"253","author":"F Kalousek","year":"1978","unstructured":"Kalousek F, Francois B, Rosenberg LE (1978) Isolation and characterization of ornithine transcarbamylase from normal human liver. J Biol Chem 253:3939\u20133944","journal-title":"J Biol Chem"},{"key":"2_CR101","first-page":"A159","volume":"37","author":"KE Kalumuck","year":"1985","unstructured":"Kalumuck KE, McInnes RR, Adcock MW, Beaudet AL, O'Brien WE (1985) Cloning of a full length cDNA for human argininosuccinate lyase. Am J Hum Genet 37:A159","journal-title":"Am J Hum Genet"},{"key":"2_CR102","first-page":"78","volume":"2","author":"N Kamimura","year":"1986","unstructured":"Kamimura N, Mito T, Nakano C, Ishii S, Nakao Y, Kisa T (1986) A case with argininosuccinic aciduria (in Japanese). Jpn Soc Inherited Metab Dis 2:78","journal-title":"Jpn Soc Inherited Metab Dis"},{"key":"2_CR103","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1002\/pd.1970030111","volume":"3","author":"P Kamoun","year":"1983","unstructured":"Kamoun P, Parvy PH, Phan Dinh D, Boue J, Cathelineau L (1983) Citrulline in aminotic fluid and the prenatal diagnosis of citrullinemia. Prenat Diagn 3:53\u201356","journal-title":"Prenat Diagn"},{"key":"2_CR104","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/S0022-3476(83)80481-8","volume":"103","author":"SS Kang","year":"1983","unstructured":"Kang SS, Wong PWK, Melyn MA (1983) Hyperargininemia: effect of ornithine and lysine supplementation. J Pediatr 103:763\u2013765","journal-title":"J Pediatr"},{"key":"2_CR105","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1111\/j.1432-1033.1982.tb06579.x","volume":"123","author":"S Kawamoto","year":"1982","unstructured":"Kawamoto S, Ishida H, Mori M, Tatibana M (1982) Regulation of N-acetylglutamate synthetase in mouse liver. Postprandial changes in sensitivity to activation by arginine. Eur J Biochem 123:637\u2013641","journal-title":"Eur J Biochem"},{"key":"2_CR106","first-page":"83","volume":"2","author":"S Kawamoto","year":"1985","unstructured":"Kawamoto S, Amaya Y, Oda T, Kusumi T, Saheki T, Kimura S, Mori M (1985) Molecular cloning of cDNAs for arginase and argininosuccinate lyase of rat liver. Jpn Soc Inherited Metab Dis 2:83","journal-title":"Jpn Soc Inherited Metab Dis"},{"key":"2_CR107","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1016\/0006-291X(86)90425-0","volume":"136","author":"S Kawamoto","year":"1986","unstructured":"Kawamoto S, Amaya Y, Oda T, Kusumi T, Saheki T, Kimura S, Mori M (1986) Cloning and expression in Escherichia coli of cDNA for arginase of rat liver. Biochem Biophys Res Commun 136:955\u2013961","journal-title":"Biochem Biophys Res Commun"},{"key":"2_CR108","unstructured":"Kawamoto S, Sonoda T, Ohtake A, Suzuki Y, Tatibana M (submitted) Alteration in arginine activation of N-acetylglutamate synthetase in vitro by disulfide or thiol compounds"},{"key":"2_CR109","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1042\/bj1330779","volume":"133","author":"GA Kaysen","year":"1973","unstructured":"Kaysen GA, Strecker HJ (1973) Purification and properties of arginase of rat kidney. Biochem J 133:779\u2013788","journal-title":"Biochem J"},{"key":"2_CR110","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1203\/00006450-197506000-00008","volume":"9","author":"NG Kennaway","year":"1975","unstructured":"Kennaway NG, Harwood PJ, Ramberg DA, Koler RD, Buist NRM (1975) Citrullinemia: enzymatic evidence for genetic heterogeneity. Pediatr Res 9:554\u2013558","journal-title":"Pediatr Res"},{"key":"2_CR111","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1021\/bi00545a015","volume":"19","author":"ME Kimball","year":"1980","unstructured":"Kimball ME, Jacoby LB (1980) Purification and properties of argininosuccinate synthetase from normal and canavanine-resistant human lymphoblasts. Biochemistry 19:705\u2013709","journal-title":"Biochemistry"},{"key":"2_CR112","first-page":"592","volume":"26","author":"I Kitajima","year":"1986","unstructured":"Kitajima I, Goto K, Umehara F, Nagamatsu K, Kanehisa Y (1986) A case of lysinuric protein intolerance with intermittent stupor looking like psychomotor seizure in adulthood. Clin Neurol 26:592\u2013600","journal-title":"Clin Neurol"},{"key":"2_CR113","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/pd.1970040205","volume":"4","author":"WJ Kleijer","year":"1984","unstructured":"Kleijer WJ, Blom W, Huijmans JGM, Mooyman MCT, Berger R, Niermeijer MF (1984) Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies. Prenat Diagn 4:113\u2013118","journal-title":"Prenat Diagn"},{"key":"2_CR114","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/0009-8981(86)90166-X","volume":"159","author":"K Kobayashi","year":"1986","unstructured":"Kobayashi K, Itakura Y, Saheki T, Nakano K, Sase M, Oyanagi K, Okamoto R, Mino M (1986a) Absence of argininosuccinate lyase protein in the liver of two patients with argininosuccinic aciduria. Clin Chim Acta 159:59\u201367","journal-title":"Clin Chim Acta"},{"key":"2_CR115","first-page":"667","volume":"38","author":"K Kobayashi","year":"1986","unstructured":"Kobayashi K, Saheki T, Imamura Y, Noda T, Inoue I, Matuo S, Hagihara S, Nomiyama H, Jinno Y, Shimada K (1986b) Messenger RNA coding for argininosuccinate synthetase in citrullinemia. Am J Hum Genet 38:667\u2013680","journal-title":"Am J Hum Genet"},{"key":"2_CR116","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1016\/0009-8981(83)90005-0","volume":"132","author":"H Kodama","year":"1983","unstructured":"Kodama H, Samukawa K, Okada S, Nose O, Maki I, Yamaguchi M, Yabuuchi H (1983) Study of ammonia metabolism in a patient with ornithine transcarbamylase deficiency using a 15N tracer. Clin Chim Acta 132:267\u2013275","journal-title":"Clin Chim Acta"},{"key":"2_CR117","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1007\/BF01799456","volume":"9","author":"H Kodama","year":"1986","unstructured":"Kodama H, Ohtake A, Mori M, Okabe I, Tatibana M, Kamoshita S (1986) Ornithine transcarbamylase deficiency. A case with a truncated enzyme precursor and a case with undetectable mRNA activity. J Inherited Metab Dis 9:175\u2013185","journal-title":"J Inherited Metab Dis"},{"key":"2_CR118","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/0009-8981(86)90083-5","volume":"154","author":"L Konarska","year":"1986","unstructured":"Konarska L, Tomaszewski L (1986) A simple quantitative micromethod of arginase assay in blood spots dried on filter paper. Clin Chim Acta 154:7\u201318","journal-title":"Clin Chim Acta"},{"key":"2_CR119","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/0009-8981(81)90109-1","volume":"115","author":"L Konarska","year":"1981","unstructured":"Konarska L, Wiesmann U, Colombo JP (1981) Arginase activity in human fibroblast cultures. Clin Chim Acta 115:85\u201392","journal-title":"Clin Chim Acta"},{"key":"2_CR120","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1159\/000469602","volume":"29","author":"L Konarska","year":"1983","unstructured":"Konarska L, Wiesmann U, v. Fellenberg R, Colombo JP (1983) Isoenzyme pattern and immunological properties of arginase in normal and hyperargininemia fibroblasts. Enzyme 29:44\u201353","journal-title":"Enzyme"},{"key":"2_CR121","first-page":"337","volume":"23","author":"L Konarska","year":"1985","unstructured":"Konarska L, Tomaszewski L, Colombo JP, Terheggen HG (1985) Human salivary arginase and its deficiency in arginaemia. J Clin Chem Clin Biochem 23:337\u2013342","journal-title":"J Clin Chem Clin Biochem"},{"key":"2_CR122","first-page":"47","volume":"6","author":"T Kooka","year":"1977","unstructured":"Kooka T, Higashi Y, Uebayashi Y, Kobayashi R (1977) A special form of hepatocerebral degeneration with citrullinemia. Neurol Med 6:47\u201353","journal-title":"Neurol Med"},{"key":"2_CR123","first-page":"A163","volume":"37","author":"M Lambert","year":"1985","unstructured":"Lambert M, Simard L, Ray P, McInnes RR (1985) Cloning of argininosuccinate lyase (ASL) and molecular analysis of ASL expression in rat hepatoma lines. Am J Hum Genet 37:A163","journal-title":"Am J Hum Genet"},{"key":"2_CR124","doi-asserted-by":"crossref","first-page":"1722","DOI":"10.1128\/MCB.6.5.1722","volume":"6","author":"MA Lambert","year":"1986","unstructured":"Lambert MA, Simard LR, Ray PN, McInnes RR (1986) Molecular cloning of cDNA for rat argininosuccinate lyase and its expression in rat hepatoma cell lines. Mol Cell Biol 6:1722\u20131728","journal-title":"Mol Cell Biol"},{"key":"2_CR125","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/adc.44.234.162","volume":"44","author":"B Levin","year":"1969","unstructured":"Levin B, Dobbs RH, Burgess EA, Palmer T (1969) Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase. Arch Dis Child 44:162\u2013169","journal-title":"Arch Dis Child"},{"key":"2_CR126","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1203\/00006450-197308000-00010","volume":"7","author":"B Levin","year":"1973","unstructured":"Levin B, Oberholzer VG, Palmer T (1973) Citrullinemia and an alternative urea cycle. Pediatr Res 7:728","journal-title":"Pediatr Res"},{"key":"2_CR127","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1126\/science.6494904","volume":"226","author":"V Lindgren","year":"1984","unstructured":"Lindgren V, de Martinville B, Horwich AL, Rosenberg LE, Francke U (1984) Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus. Science 226:698\u2013700","journal-title":"Science"},{"key":"2_CR128","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1007\/BF00484469","volume":"15","author":"O Lockridge","year":"1977","unstructured":"Lockridge O, Spector EB, Bloom AD (1977) Argininosuccinate synthetase activity in cultured human lymphocytes. Biochem Genet 15:395\u2013407","journal-title":"Biochem Genet"},{"key":"2_CR129","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1111\/j.1432-1033.1978.tb12249.x","volume":"85","author":"CJ Lusty","year":"1978","unstructured":"Lusty CJ (1978) Carbamylphosphate synthetase I of rat-liver mitochondria. Purification, properties, and polypeptide molecular weight. Eur J Biochem 85:373\u2013383","journal-title":"Eur J Biochem"},{"key":"2_CR130","doi-asserted-by":"crossref","first-page":"10030","DOI":"10.1016\/S0021-9258(19)86668-1","volume":"254","author":"CJ Lusty","year":"1979","unstructured":"Lusty CJ, Jilka RL, Nietsch EH (1979) Ornithine transcarbamylase of rat liver. Kinetic, physical, and chemical properties. J Biol Chem 254:10030\u201310036","journal-title":"J Biol Chem"},{"key":"2_CR131","doi-asserted-by":"crossref","first-page":"C74","DOI":"10.1152\/ajpcell.1983.245.1.C74","volume":"245","author":"AM Mans","year":"1983","unstructured":"Mans AM, Biebuyck JF, Hawkins RA (1983) Ammonia selectively stimulates neutral amino acid transport across blood-brain barrier. Am J Physiol 245:C74\u201377","journal-title":"Am J Physiol"},{"key":"2_CR132","first-page":"211","volume":"17","author":"B Marescau","year":"1979","unstructured":"Marescau B, Pintens J, Lowenthal A, Terheggen HG, Adriaenssens K (1979) Arginase and free amino acids in hyperargininemia: leucocyte arginase as a diagnostic parameter for heterozygotes. J Clin Chem Clin Biochem 17:211\u2013217","journal-title":"J Clin Chem Clin Biochem"},{"key":"2_CR133","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/0009-8981(85)90120-2","volume":"146","author":"B Marescau","year":"1985","unstructured":"Marescau B, Qureshi IA, De Deyn P, Letarte J, Ryba R, Lowenthal A (1985) Guanidino compounds in plasma, urine and cerebrospinal fluid of hyperargininemic patients during therapy. Clin Chim Acta 146:21\u201327","journal-title":"Clin Chim Acta"},{"key":"2_CR134","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1016\/S0021-9258(19)45528-2","volume":"247","author":"M Marshall","year":"1972","unstructured":"Marshall M, Cohen PP (1972) Ornithine transcarbamylase from Streptococcus faecalis and bovine liver. I. Isolation and subunit structure. J Biol Chem 247:1641\u20131653","journal-title":"J Biol Chem"},{"key":"2_CR135","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1203\/00006450-197910000-00010","volume":"13","author":"I Matsuda","year":"1979","unstructured":"Matsuda I, Arashima S, Imanishi Y, Yamamoto J, Akaboshi I, Shinozuka S, Nagata N (1979) Lysine intolerance in a variant form of citrullinemia. Pediatr Res 13:1134\u20131136","journal-title":"Pediatr Res"},{"key":"2_CR136","first-page":"214","volume":"86","author":"M Matsuo","year":"1982","unstructured":"Matsuo M, Ookita K, Hashimoto T, Takemine H, Ito H, Koike K, Koike M (1982) A case with deficiency of pyruvate decarboxylase accompanied with hyperammonemia (in Japanese). J Jpn Pediatr Soc 86:214\u2013219","journal-title":"J Jpn Pediatr Soc"},{"key":"2_CR137","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1042\/bj1540415","volume":"154","author":"JD McGivan","year":"1976","unstructured":"McGivan JD, Bradford NM, Mendes-Mourao J (1976) The regulation of carbamoylphosphate synthase activity in rat liver mitochondria. Biochem J 154:415\u2013421","journal-title":"Biochem J"},{"key":"2_CR138","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1042\/bj1620147","volume":"162","author":"JD McGivan","year":"1977","unstructured":"McGivan JD, Bradford NM, Beavis AD (1977) Factors influencing the activity of ornithine aminotransferase in isolated rat liver mitochondria. Biochem J 162:147\u2013156","journal-title":"Biochem J"},{"key":"2_CR139","doi-asserted-by":"crossref","first-page":"4480","DOI":"10.1073\/pnas.81.14.4480","volume":"81","author":"RR McInnes","year":"1984","unstructured":"McInnes RR, Shih V, Chilton S (1984) Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc Natl Acad Sci USA 81:4480\u20134484","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR140","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1016\/S0140-6736(62)91135-2","volume":"i","author":"WC McMurray","year":"1962","unstructured":"McMurray WC, Mohyuddin F, Rossiter RM, Rathbun JC, Valentine GH, Koegler SJ, Zarfas DE (1962) Citrullinuria. A new aminoaciduria associated with mental retardation. Lancet i:138","journal-title":"Lancet"},{"key":"2_CR141","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/BF01805595","volume":"7","author":"K Metoki","year":"1984","unstructured":"Metoki K, Hommes FA, Dyken P, Kelloes C, Trefz J (1984) Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome. J Inherited Metab Dis 7:147\u2013150","journal-title":"J Inherited Metab Dis"},{"key":"2_CR142","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1042\/bj1660105","volume":"164","author":"VA Mezl","year":"1977","unstructured":"Mezl VA, Knox WE (1977) Metabolism of arginine in lactating rat mammary gland. Biochem J 164:105\u2013113","journal-title":"Biochem J"},{"key":"2_CR143","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1399-0004.1978.tb04128.x","volume":"13","author":"VV Michels","year":"1978","unstructured":"Michels VV, Beaudet AL (1978) Arginase deficiency in multiple tissues in argininemia. Clin Genet 13:61\u201367","journal-title":"Clin Genet"},{"key":"2_CR144","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1177\/16.3.172","volume":"16","author":"A Mizutani","year":"1968","unstructured":"Mizutani A (1968) Cytochemical demonstration of ornithine carbamoyltransferase activity in liver mitochondria of rat and mouse. J Histochem Cytochem 16:172\u2013180","journal-title":"J Histochem Cytochem"},{"key":"2_CR145","doi-asserted-by":"crossref","first-page":"6056","DOI":"10.1073\/pnas.78.10.6056","volume":"78","author":"M Mori","year":"1981","unstructured":"Mori M, Morita T, Ikeda F, Amaya Y, Tatibana M, Cohen PP (1981) Synthesis, intracellular transport, and processing of the precursors for mitochondrial ornithine transcarbamylase and carbamylphosphate synthetase I in isolated hepatocytes. Proc Natl Acad Sci USA 78:6056\u20136060","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR146","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/0003-2697(79)90197-0","volume":"95","author":"K Murakami-Murofushi","year":"1979","unstructured":"Murakami-Murofushi K, Ratner S (1979) Argininosuccinase from bovine brain: isolation and comparison of catalytic, physical, and chemical properties with the enzymes from liver and kidney. Anal Biochem 95:139\u2013155","journal-title":"Anal Biochem"},{"key":"2_CR147","doi-asserted-by":"crossref","first-page":"6159","DOI":"10.1073\/pnas.75.12.6159","volume":"75","author":"SL Naylor","year":"1978","unstructured":"Naylor SL, Klebe RJ, Shows TB (1978) Argininosuccinic aciduria: Assignment of the argininosuccinate lyase gene to the pter \u2192q22 region of human chromosome 7 by bioautography. Proc Natl Acad Sci USA 75:6159\u20136162","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR148","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/0022-2836(86)90361-X","volume":"192","author":"H Nomiyama","year":"1986","unstructured":"Nomiyama H, Obaru K, Jinno Y, Matsuda I, Shimada K, Miyata T (1986) Amplification of human argininosuccinate synthetase pseudogenes. J Mol Biol 192:221\u2013233","journal-title":"J Mol Biol"},{"key":"2_CR149","first-page":"149","volume":"38","author":"RL Nussbaum","year":"1986","unstructured":"Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE (1986) New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Am J Hum Genet 38:149\u2013158","journal-title":"Am J Hum Genet"},{"key":"2_CR150","doi-asserted-by":"publisher","first-page":"5353","DOI":"10.1021\/bi00591a015","volume":"18","author":"WE O'Brien","year":"1979","unstructured":"O'Brien WE (1979) Isolation and characterization of argininosuccinate synthetase from human liver. Biochemistry 18:5353\u20135356","journal-title":"Biochemistry"},{"key":"2_CR151","doi-asserted-by":"publisher","first-page":"2056","DOI":"10.1021\/bi00510a049","volume":"20","author":"WE O'Brien","year":"1981","unstructured":"O'Brien WE, Barr RH (1981) Argininosuccinate lyase: purification and characterization from human liver. Biochemistry 20:2056\u20132060","journal-title":"Biochemistry"},{"key":"2_CR152","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1111\/j.1442-200X.1984.tb01823.x","volume":"26","author":"A Ohtake","year":"1984","unstructured":"Ohtake A, Miura S, Mori M, Takayanagi M, Kakinuma H, Tatibana M, Nakajima H (1984) A carbamyl phosphate synthetase I deficiency with no detectable messenger RNA activity. Acta Paediatr Jpn 26:262\u2013265","journal-title":"Acta Paediatr Jpn"},{"key":"2_CR153","first-page":"19","volume-title":"Recombinant DNA applications to human disease","author":"SH Orkin","year":"1983","unstructured":"Orkin SH (1983) A review of \u03b2-thalassemias: The spectrum of gene mutations. In: Caskey CT, White RL (eds) Recombinant DNA applications to human disease. Cold Spring Harbor Laboratory, New York, pp 19\u201328 (Banbury reports vol 14)"},{"key":"2_CR154","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/BF01800748","volume":"6","author":"K Oyanagi","year":"1983","unstructured":"Oyanagi K, Tsuchiyama A, Itakura Y, Sogawa H, Wagatsuma K, Nakao T (1983) The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria. J Inherited Metab Dis 6:133\u2013134","journal-title":"J Inherited Metab Dis"},{"key":"2_CR155","first-page":"347","volume":"33","author":"K Oyanagi","year":"1985","unstructured":"Oyanagi K, Itakura Y, Tsuchiyama A, Uetsuji N, Tsugawa S, Sase M, Saheki T (1985) Argininosuccinic aciduria associated with argininosuccinate synthetase deficiency in liver (in Japanese). Rinsho Shoni Igaku 33:347\u2013352","journal-title":"Rinsho Shoni Igaku"},{"key":"2_CR156","doi-asserted-by":"crossref","first-page":"9192","DOI":"10.1016\/S0021-9258(19)52526-1","volume":"256","author":"AG Palekar","year":"1981","unstructured":"Palekar AG, Mantagos S (1981) Human liver argininosuccinase purification and partial characterization. J Biol Chem 256:9192\u20139194","journal-title":"J Biol Chem"},{"key":"2_CR157","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/0009-8981(80)90468-4","volume":"105","author":"TL Perry","year":"1980","unstructured":"Perry TL, Wirtz MLK, Kennaway NG, Hsia YE, Atienza FC, Uemura HS (1980) Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. Clin Chim Acta 105:257\u2013267","journal-title":"Clin Chim Acta"},{"key":"2_CR158","doi-asserted-by":"crossref","first-page":"7891","DOI":"10.1016\/S0021-9258(19)43918-5","volume":"255","author":"DL Pierson","year":"1980","unstructured":"Pierson DL, Brien JM (1980) Human carbamylphosphate synthetase I. Stabilization, purification, and partial characterization of the enzyme from human liver. J Biol Chem 255:7891\u20137895","journal-title":"J Biol Chem"},{"key":"2_CR159","doi-asserted-by":"crossref","first-page":"6464","DOI":"10.1016\/S0021-9258(17)39981-7","volume":"252","author":"DL Pierson","year":"1977","unstructured":"Pierson DL, Cox SL, Gilbert BE (1977) Human ornithine transcarbamylase. Purification and characterization of the enzyme from normal liver and the liver of a Reye's syndrome patient. J Biol Chem 252:6464\u20136469","journal-title":"J Biol Chem"},{"key":"2_CR160","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/0304-4165(83)90108-3","volume":"757","author":"P Pohjanpelto","year":"1983","unstructured":"Pohjanpelto P, Holtta E (1983) Arginase activity of different cells in tissue culture. Biochim Biophys Acta 757:191\u2013195","journal-title":"Biochim Biophys Acta"},{"key":"2_CR161","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/0009-8981(73)90099-5","volume":"46","author":"RJ Pollitt","year":"1973","unstructured":"Pollitt RJ (1973) Argininosuccinate lyase levels in blood, liver and cultured fibroblasts of a patient with argininosuccinic aciduria. Clin Chim Acta 46:33\u201337","journal-title":"Clin Chim Acta"},{"key":"2_CR162","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/BF01813898","volume":"9","author":"MA Pollock","year":"1986","unstructured":"Pollock MA, Cumberbatch M, Bennett MJ, Gray RGF, Brand M, Hyland K, Congdon PJ, Pitts-Tucker T, Gray S (1986) Pyruvate carboxylase deficiency in twins. J Inherited Metab Dis 9:29\u201330","journal-title":"J Inherited Metab Dis"},{"key":"2_CR163","doi-asserted-by":"crossref","first-page":"11160","DOI":"10.1016\/S0021-9258(19)68571-6","volume":"256","author":"SG Powers","year":"1981","unstructured":"Powers SG (1981) Regulation of rat liver carbamyl phosphate synthetase I. Inhibition by metal ions and activation by amino acids and other chelating agents. J Biol Chem 256:11160\u201311165","journal-title":"J Biol Chem"},{"key":"2_CR164","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1203\/00006450-197804000-00002","volume":"12","author":"IA Qureshi","year":"1978","unstructured":"Qureshi IA, Letarte J, Ouellet R, Lemieux B (1978) Enzymologic and metabolic studies in two families affected by argininosuccinic aciduria. Pediatr Res 12:256\u2013262","journal-title":"Pediatr Res"},{"key":"2_CR165","first-page":"5","volume":"7","author":"IA Qureshi","year":"1981","unstructured":"Qureshi IA, Letarte J, Ouellet R, Lelievre M, Laberge C (1981) Ammonia metabolism in a family affected by hyperargininemia. Diabete Metab 7:5\u201311","journal-title":"Diabete Metab"},{"key":"2_CR166","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF02310878","volume":"6","author":"IA Qureshi","year":"1983","unstructured":"Qureshi IA, Letarte J, Ouellet R, Larochelle J, Lemieux B (1983) A new French-Canadian family affected by hyperargininaemia. J Inherited Metab Dis 6:179\u2013182","journal-title":"J Inherited Metab Dis"},{"key":"2_CR167","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/0006-2944(79)90077-2","volume":"21","author":"L Raijman","year":"1979","unstructured":"Raijman L (1979) Double deficiencies of urea cycle enzymes in human liver. Biochem Med 21:226\u2013233","journal-title":"Biochem Med"},{"key":"2_CR168","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1016\/0003-9861(76)90508-7","volume":"175","author":"L Raijman","year":"1976","unstructured":"Raijman L, Jones ME (1976) Purification, composition, and some properties of rat liver carbamyl phosphate synthetase (ammonia). Arch Biochem Biophys 175:270\u2013278","journal-title":"Arch Biochem Biophys"},{"key":"2_CR169","first-page":"1","volume-title":"Advances in enzymology vol 39","author":"S Ratner","year":"1973","unstructured":"Ratner S (1973) Enzymes of arginine and urea synthesis. In: Meister A (ed) Advances in enzymology vol 39. Wiley, plNew York, pp 1\u201390"},{"key":"2_CR170","first-page":"181","volume-title":"The urea cycle","author":"S Ratner","year":"1976","unstructured":"Ratner S (1976) Enzymes of arginine and urea synthesis. In: Grisolia S, Baguena R, Mayor F (eds) The urea cycle. Wiley, New York, pp 181\u2013219"},{"key":"2_CR171","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1016\/0003-9861(83)90114-5","volume":"225","author":"FM Raushel","year":"1983","unstructured":"Raushel FM, Seiglie J (1983) Kinetic mechanism of argininosuccinate synthetase. Arch Biochem Biophys 225:979\u2013985","journal-title":"Arch Biochem Biophys"},{"key":"2_CR172","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1111\/j.1471-4159.1985.tb12906.x","volume":"44","author":"P Rigotti","year":"1985","unstructured":"Rigotti P, Jonung T, Peters JC, James JH, Fischer JE (1985) Methionine sulfoximine prevents the accumulation of large neutral amino acids in brain of portacaval-shunted rats. J Neurochem 44:929\u2013933","journal-title":"J Neurochem"},{"key":"2_CR173","doi-asserted-by":"crossref","first-page":"5287","DOI":"10.1016\/S0021-9258(19)63345-4","volume":"252","author":"O Rochovansky","year":"1977","unstructured":"Rochovansky O, Kodowaki H, Ratner S (1977) Biosynthesis of urea: molecular and regulatory properties of crystalline argininosuccinate synthetase. J Biol Chem 252:5287\u20135294","journal-title":"J Biol Chem"},{"key":"2_CR174","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1016\/S0140-6736(82)90272-0","volume":"ii","author":"CH Rodeck","year":"1982","unstructured":"Rodeck CH, Patrick AD, Pembrey ME, Tzannatos C, Whitfield AE (1982) Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency. Lancet ii:297\u2013299","journal-title":"Lancet"},{"key":"2_CR175","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1203\/00006450-197311000-00001","volume":"7","author":"FH Roerdink","year":"1973","unstructured":"Roerdink FH, Gouw WLM, Okken A, Van der Blij JF, Haan GL Hommes FA, Huisjes HJ (1973) Citrullinemia, report of a case, with studies on antenatal diagnosis. Pediatr Res 7:863\u2013869","journal-title":"Pediatr Res"},{"key":"2_CR176","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1126\/science.6623083","volume":"222","author":"LE Rosenberg","year":"1983","unstructured":"Rosenberg LE, Kalousek F, Orsulak MD (1983) Biogenesis of ornithine transcarbamylase in spf ash mutant mice: two cytoplasmic precursors, one mito-chondrial enzyme. Science 222:426\u2013428","journal-title":"Science"},{"key":"2_CR177","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1038\/313815a0","volume":"313","author":"R Rozen","year":"1985","unstructured":"Rozen R, Fox J, Fenton WA, Horwich AL, Rosenberg LE (1985) Gene deletion and restriction fragment length polymorphisms at the human ornithine trans-carbamylase locus. Nature 313:815\u2013817","journal-title":"Nature"},{"key":"2_CR178","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1159\/000459184","volume":"26","author":"V Rubio","year":"1981","unstructured":"Rubio V, Grisolia S (1981) Human carbamoylphosphate syntetase I. Enzyme 26:233\u2013239","journal-title":"Enzyme"},{"key":"2_CR179","doi-asserted-by":"crossref","first-page":"9172","DOI":"10.1016\/S0021-9258(17)47280-2","volume":"259","author":"J Ryall","year":"1984","unstructured":"Ryall J, Rauchubinski RA, Nguyen M, Rozen R, Broglie KE, Shore GC (1984) Regulation and expression of carbamyl phosphate synthetase I mRNA in developing rat liver and Morris hepatoma 5123D. J Biol Chem 259:9172\u20139176","journal-title":"J Biol Chem"},{"key":"2_CR180","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/0014-5793(75)80287-0","volume":"58","author":"T Saheki","year":"1975","unstructured":"Saheki T, Kusumi T, Takada S, Katsunuma T, Katunuma N (1975) Crystallization and some properties of argininosuccinate synthetase from rat liver. FEBS Lett 58:314\u2013317","journal-title":"FEBS Lett"},{"key":"2_CR181","first-page":"551","volume":"82","author":"T Saheki","year":"1977","unstructured":"Saheki T, Katsunuma T, Sase M (1977a) Changes of ornithine and acetylglutamate concentrations in the livers of rats subjected to dietary transitions. J Biochem 82:551\u2013558","journal-title":"J Biochem"},{"key":"2_CR182","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1093\/oxfordjournals.jbchem.a131505","volume":"81","author":"T Saheki","year":"1977","unstructured":"Saheki T, Kusumi T, Takada S, Katsunuma T (1977b) Studies of rat liver argininosuccinate synthetase. I. Physiochemical, catalytic, and immunochemical properties. J Biochem 81:687\u2013696","journal-title":"J Biochem"},{"key":"2_CR183","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1093\/oxfordjournals.jbchem.a132264","volume":"84","author":"T Saheki","year":"1978","unstructured":"Saheki T, Ohkubo T, Katsunuma T (1978) Increase in the concentrations of ornithine and acetylglutamate in rat liver in response to urea synthesis stimulated by the injection of an ammonium salt. J Biochem 84:1423\u20131430","journal-title":"J Biochem"},{"key":"2_CR184","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/0009-8981(81)90318-1","volume":"109","author":"T Saheki","year":"1981","unstructured":"Saheki T, Ueda A, Hosoya M, Kusumi K, Takada S, Tsuda M, Katsunuma T (1981) Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. Clin Chim Acta 109:325\u2013335","journal-title":"Clin Chim Acta"},{"key":"2_CR185","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/978-1-4757-6903-6_9","volume":"153","author":"T Saheki","year":"1982","unstructured":"Saheki T, Ueda A, Hosoya M, Sase M, Nakano K, Katsunuma T (1982a) Enzymatic analysis of citrullinemia (12 cases) in Japan. Adv Exp Med Biol 153:63\u201376","journal-title":"Adv Exp Med Biol"},{"key":"2_CR186","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/0009-8981(82)90230-3","volume":"118","author":"T Saheki","year":"1982","unstructured":"Saheki T, Ueda A, Lizima K, Yamada N, Kobayashi K, Takahashi K, Katsunuma T (1982b) Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients. Clin Chim Acta 118:93\u201397","journal-title":"Clin Chim Acta"},{"key":"2_CR187","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.1093\/oxfordjournals.jbchem.a134291","volume":"93","author":"T Saheki","year":"1983","unstructured":"Saheki T, Sase M, Nakano K, Azuma F, Katsunuma T (1983a) Some properties of argininosuccinate synthetase purified from human liver and a comparison with the rat liver enzyme. J Biochem 93:1531\u20131537","journal-title":"J Biochem"},{"key":"2_CR188","doi-asserted-by":"crossref","first-page":"235","DOI":"10.2220\/biomedres.4.235","volume":"4","author":"T Saheki","year":"1983","unstructured":"Saheki T, Yagi Y, Sase M, Nakano K, Sato E (1983b) Immunohistochemical localization of argininosuccinate synthetase in the liver of control and citrullinemic patients. Biomed Res 4:235\u2013238","journal-title":"Biomed Res"},{"key":"2_CR189","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1007\/BF01805609","volume":"7","author":"T Saheki","year":"1984","unstructured":"Saheki T, Imamura Y, Inoue I, Miura S, Mori M, Ohtake A, Tatibana M, Katsumata N, Ohno T (1984) Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein. J Inherited Metab Dis 7:2\u20138","journal-title":"J Inherited Metab Dis"},{"key":"2_CR190","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1007\/BF01819306","volume":"8","author":"T Saheki","year":"1985","unstructured":"Saheki T, Nakano K, Kobayashi K, Imamura Y, Itakura Y, Sase M, Hagihara S, Matuo S (1985a) Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinemia in Japan. J Inherited Metab Dis 8:155\u2013156","journal-title":"J Inherited Metab Dis"},{"key":"2_CR191","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/978-1-4757-0752-6_16","volume-title":"Guanidines","author":"T Saheki","year":"1985","unstructured":"Saheki T, Sase M, Nakano K, Yagi Y (1985b) Arginine metabolism in citrullinemic patients. In: Mori A, Cohen BD, Lowenthal A (eds) Guanidines. Plenum, New York, pp 149\u2013158"},{"key":"2_CR192","doi-asserted-by":"crossref","first-page":"129","DOI":"10.3164\/jcbn.1.129","volume":"1","author":"T Saheki","year":"1986","unstructured":"Saheki T, Kobayashi K, Miura T, Hashimoto S, Ueno Y, Yamasaki T, Araki H, Nara H, Shiozaki Y, Sameshima Y, Suzuki M, Yamauchi Y, Sakazume Y, Akiyama K, Yamaura Y (1986) Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline. J Clin Biochem Nutr 1:129\u2013142","journal-title":"J Clin Biochem Nutr"},{"key":"2_CR193","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/978-1-4757-6903-6_12","volume":"153","author":"T Sakiyama","year":"1982","unstructured":"Sakiyama T, Suzuki T, Owada M, Kitagawa T (1982) First case of argininosuccinic aciduria in Japan: clinical observations and treatment. Adv Exp Med Biol 153:95\u2013100","journal-title":"Adv Exp Med Biol"},{"key":"2_CR194","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1007\/BF00293282","volume":"69","author":"M Sase","year":"1985","unstructured":"Sase M, Kobayashi K, Imamura Y, Saheki T, Nakano K, Miura S, Mori M (1985) Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia. Hum Genet 69:130\u2013134","journal-title":"Hum Genet"},{"key":"2_CR195","doi-asserted-by":"crossref","first-page":"3808","DOI":"10.1016\/S0021-9258(18)91209-3","volume":"239","author":"RT Schimke","year":"1964","unstructured":"Schimke RT (1964) The importance of both synthesis and degradation in the control of arginase levels in rat liver. J Biol Chem 239:3808\u20133817","journal-title":"J Biol Chem"},{"key":"2_CR196","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/BF01805556","volume":"2","author":"RBH Schutgens","year":"1979","unstructured":"Schutgens RBH, Beemer FA, Tegelaers WHH, De Groot WP (1979) Mild variant of argininosuccinic aciduria. J Inherited Metab Dis 2:13\u201314","journal-title":"J Inherited Metab Dis"},{"key":"2_CR197","first-page":"626","volume":"6","author":"A Scott-Emuakpor","year":"1972","unstructured":"Scott-Emuakpor A, Higgins JV, Kohrman AF (1972) Citrullinemia: a new case, with implications concerning adaptation to defective urea synthesis. Pediatr Res 6:626\u2013633","journal-title":"Pediatr Res"},{"key":"2_CR198","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1016\/S0006-291X(71)80201-2","volume":"44","author":"K Shigesada","year":"1971","unstructured":"Shigesada K, Tatibana M (1971a) Enzymatic synthesis of acetylglutamate by mammalian liver preparation and its stimulation by arginine. Biochem Biophys Res Commun 44:1117\u20131124","journal-title":"Biochem Biophys Res Commun"},{"key":"2_CR199","doi-asserted-by":"crossref","first-page":"5588","DOI":"10.1016\/S0021-9258(18)61849-6","volume":"246","author":"K Shigesada","year":"1971","unstructured":"Shigesada K, Tatibana M (1971b) Role of acetylglutamate in ureotelism. I. Occurrence and biosynthesis of acetylglutamate in mouse and rat tissues. J Biol Chem 246:5588\u20135595","journal-title":"J Biol Chem"},{"key":"2_CR200","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1111\/j.1432-1033.1978.tb12167.x","volume":"84","author":"K Shigesada","year":"1978","unstructured":"Shigesada K, Tatibana M (1978) N-Acetylglutamate synthetase from rat-liver mitochondria. Partial purification and catalytic properties. Eur J Biochem 84:285\u2013291","journal-title":"Eur J Biochem"},{"key":"2_CR201","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1111\/j.1432-1033.1978.tb12250.x","volume":"85","author":"K Shigesada","year":"1978","unstructured":"Shigesada K, Aoyagi K, Tatibana M (1978) Role of acetylglutamate in ureotelism. Variations in acetylglutamate level and its possible significance in control of urea synthesis in mammalian liver. Eur J Biochem 85:385\u2013391","journal-title":"Eur J Biochem"},{"key":"2_CR202","first-page":"367","volume-title":"The urea cycle","author":"VE Shih","year":"1976","unstructured":"Shih VE (1976) Hereditary urea-cycle disorders. In: Grisolia S, Baguena R, Mayor F (eds) The urea cycle. Wiley, New York, pp 367\u2013414"},{"key":"2_CR203","first-page":"362","volume-title":"The metabolic basis of inherited disease","author":"VE Shih","year":"1978","unstructured":"Shih VE (1978) Urea cycle disorders and other congenital hyperammonemic syndromes. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease, 4th edn. McGraw-Hill, New York, pp 362\u2013386","edition":"4th edn."},{"key":"2_CR204","doi-asserted-by":"publisher","first-page":"1522","DOI":"10.1016\/S0140-6736(74)90267-0","volume":"ii","author":"VE Shih","year":"1974","unstructured":"Shih VE, Mandell R (1974) Metabolic defect in hyperornithinaemia. Lancet ii:1522\u20131523","journal-title":"Lancet"},{"key":"2_CR205","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1001\/archpedi.1969.02100030085009","volume":"117","author":"VE Shih","year":"1969","unstructured":"Shih VE, Efron ML, Moser HW (1969) Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation. Am J Dis Child 117:83\u201392","journal-title":"Am J Dis Child"},{"key":"2_CR206","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/0009-8981(82)90002-X","volume":"118","author":"VE Shih","year":"1982","unstructured":"Shih VE, Mandell R, Herzfeld A (1982) Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. Clin Chim Acta 118:149\u2013157","journal-title":"Clin Chim Acta"},{"key":"2_CR207","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1203\/00006450-198512000-00016","volume":"19","author":"O Simell","year":"1985","unstructured":"Simell O, Mackenzie S, Clow CL, Scriver CR (1985) Ornithine loading did not prevent induced hyperammonemia in a patient with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Pediatr Res 19:1283\u20131287","journal-title":"Pediatr Res"},{"key":"2_CR208","first-page":"83","volume":"30","author":"I Skrzypek-Osiecka","year":"1983","unstructured":"Skrzypek-Osiecka I, Robin Y, Porembska Z (1983) Purification of rat kidney arginases A1 and A4 and their subcellular distribution. Acta Biochim Pol 30:83\u201392","journal-title":"Acta Biochim Pol"},{"key":"2_CR209","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/S0022-3476(77)80367-3","volume":"90","author":"SE Snyderman","year":"1977","unstructured":"Snyderman SE, Sansaricq C, Chen WJ, Norton PM, Phansalkar SV (1977) Argininemia. J Pediatr 90:563\u2013568","journal-title":"J Pediatr"},{"key":"2_CR210","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-3476(79)80082-7","volume":"95","author":"SE Snyderman","year":"1979","unstructured":"Snyderman SE, Sansaricq C, Norton PM, Goldstein F, (1979) Argininemia treated from birth. J Pediatr 95:61\u201363","journal-title":"J Pediatr"},{"key":"2_CR211","doi-asserted-by":"crossref","first-page":"9839","DOI":"10.1016\/S0021-9258(17)44574-1","volume":"258","author":"T Sonoda","year":"1983","unstructured":"Sonoda T, Tatibana M (1983) Purification of N-acetyl-L-glutamate synthetase from rat liver mitochondria and substrate and activator specificity of the enzyme. J Biol Chem 258:9839\u20139844","journal-title":"J Biol Chem"},{"key":"2_CR212","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1203\/00006450-198312000-00003","volume":"17","author":"EB Spector","year":"1983","unstructured":"Spector EB, Rice SCH, Cederbaum SD (1983) Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients. Pediat Res 17:941\u2013944","journal-title":"Pediat Res"},{"key":"2_CR213","volume-title":"The metabolic basis of inherited disease","year":"1978","unstructured":"Stanbury JB, Wyngaarden JB, Frederickson DS (eds) (1978) The metabolic basis of inherited disease, 4th edn. McGraw-Hill, New York","edition":"4th edn."},{"key":"2_CR214","doi-asserted-by":"crossref","first-page":"5270","DOI":"10.1016\/S0021-9258(19)70781-9","volume":"255","author":"PM Stewart","year":"1980","unstructured":"Stewart PM, Walser M (1980) Short term regulation of ureagenesis. J Biol Chem 255:5270\u20135280","journal-title":"J Biol Chem"},{"key":"2_CR215","doi-asserted-by":"crossref","first-page":"11826","DOI":"10.1016\/S0021-9258(19)68480-2","volume":"256","author":"TS Su","year":"1981","unstructured":"Su TS, Bock HGO, O'Brien WE, Beaudet AL (1981) Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human cell line. J Biol Chem 256:11826\u201311831","journal-title":"J Biol Chem"},{"key":"2_CR216","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1172\/JCI110736","volume":"70","author":"TS Su","year":"1982","unstructured":"Su TS, Bock HGO, Beaudet AL, O'Brien WE (1982) Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. J Clin Invest 70:1334\u20131339","journal-title":"J Clin Invest"},{"key":"2_CR217","doi-asserted-by":"crossref","unstructured":"Su TS, Bock HGO, O'Brien WE, Beaudet AL (1981) Cloning of cDNA for argininosuccinate synthetase mRNA and study of enzyme overproduction in a human","DOI":"10.1203\/00006450-198104001-00725"},{"key":"2_CR218","first-page":"954","volume":"36","author":"TS Su","year":"1984","unstructured":"Su TS, Nussbaum RL, Airhart S, Ledbetter DH, Mohandas T, O'Brien WE, Beaudet AL (1984) Human chromosomal assignments for 14 argininosuccinate synthetase pseudogenes: cloned DNAs as reagents for cytogenetic analysis. Am J Hum Genet 36:954\u2013964","journal-title":"Am J Hum Genet"},{"key":"2_CR219","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/0009-8981(86)90152-X","volume":"156","author":"Y Suzuki","year":"1986","unstructured":"Suzuki Y, Orii T, Mori M, Tatibana M, Hashimoto T (1986) Deficient activities and proteins of peroxisomal \u03b2-oxidation enzymes in infants with Zellweger syndrome. Clin Chim Acta 156:191\u2013196","journal-title":"Clin Chim Acta"},{"key":"2_CR220","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1093\/oxfordjournals.jbchem.a132652","volume":"86","author":"S Takada","year":"1979","unstructured":"Takada S, Kusumi T, Saheki T, Tsuda M, Katsunuma T (1979) Studies of rat liver argininosuccinate synthetase. The presence of three forms, and their physicochemical, catalytic, and immunochemical properties. J Biochem 86:1353\u20131359","journal-title":"J Biochem"},{"key":"2_CR221","doi-asserted-by":"crossref","first-page":"7412","DOI":"10.1073\/pnas.81.23.7412","volume":"81","author":"M Takiguchi","year":"1984","unstructured":"Takiguchi M, Miura S, Mori M, Tatibana M, Nagata S, Kaziro Y (1984) Molecular cloning and nucleotide sequence of cDNA for rat ornithine carbamoyltransferase precursor. Proc Natl Acad Sci USA 81:7412\u20137416","journal-title":"Proc Natl Acad Sci USA"},{"key":"2_CR222","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1016\/S0140-6736(69)90466-8","volume":"ii","author":"HG Terheggen","year":"1969","unstructured":"Terheggen HG, Schwenk A, Lowenthal A, van Sande M, Colombo JP (1969) Argininaemia with arginase deficiency. Lancet ii:748\u2013749","journal-title":"Lancet"},{"key":"2_CR223","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1136\/adc.50.1.57","volume":"50","author":"HG Terheggen","year":"1975","unstructured":"Terheggen HG, Lowenthal A, Lavinha F, Colombo JP (1975) Familial hyperargininaemia. Arch Dis Child 50:57\u201362","journal-title":"Arch Dis Child"},{"key":"2_CR224","first-page":"407","volume":"31","author":"C Heiden Van der","year":"1976","unstructured":"Van der Heiden C, Gerards LJ, Van Biervliet JPGM, Desplanque J, De Bree PK, Van Sprang FJ, Wadman SK (1976) Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship. Helv Paediatr Acta 31:407\u2013417","journal-title":"Helv Paediatr Acta"},{"key":"2_CR225","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/S0006-291X(75)80122-7","volume":"62","author":"AF Elsen Van","year":"1975","unstructured":"Van Elsen AF, Leroy JG (1975) Arginase isoenzymes in human diploid fibroblasts. Biochem Biophys Res Commun 62:191\u2013198","journal-title":"Biochem Biophys Res Commun"},{"key":"2_CR226","first-page":"350","volume":"29","author":"AF Elsen Van","year":"1977","unstructured":"Van Elsen AF, Leroy JG (1977) Human hyperargininemia: a mutation not expressed in skin fibroblasts? Am J Hum Genet 29:350\u2013355","journal-title":"Am J Hum Genet"},{"key":"2_CR227","first-page":"521","volume":"28","author":"M Vidailhet","year":"1971","unstructured":"Vidailhet M, Levin B, Dautrevaux M, Paysant P, Gelot S, Badonnel Y, Pierson M, Neimann N (1971) Citrullinemie. Arch Franc Ped 28:521\u2013532","journal-title":"Arch Franc Ped"},{"key":"2_CR228","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1016\/S0021-9258(19)45638-X","volume":"247","author":"F Vielle-Breitburd","year":"1972","unstructured":"Vielle-Breitburd F, Orth G (1972) Rabbit liver L-arginase. Purification, properties and subunit structure. J Biol Chem 247:1227\u20131235","journal-title":"J Biol Chem"},{"key":"2_CR229","first-page":"402","volume-title":"The metabolic basis of inherited disease","author":"M Walser","year":"1983","unstructured":"Walser M (1983) Urea cycle disorders and other hereditary hyperammonemic syndromes. In: Stanbury JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 402\u2013438"},{"key":"2_CR230","first-page":"E473","volume":"241","author":"HG Windmueller","year":"1981","unstructured":"Windmueller HG, Spaeth AE (1981) Source and fate of circulating citrulline. Am J Physiol 241:E473\u2013E480","journal-title":"Am J Physiol"},{"key":"2_CR231","first-page":"221","volume":"66","author":"T Wright","year":"1973","unstructured":"Wright T, Pollitt R (1973) Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitrulline in the urine. Proc R Soc Med 66:221\u2013226","journal-title":"Proc R Soc Med"},{"key":"2_CR232","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1620\/tjem.137.213","volume":"137","author":"Y Yajima","year":"1982","unstructured":"Yajima Y, Hirasawa T, Saheki T (1982) Diurnal fluctuation of blood ammonia levels in adult-type citrullinemia. Tohoku J Exp Med 137:213\u2013220","journal-title":"Tohoku J Exp Med"},{"key":"2_CR233","unstructured":"Yamamoto H, Sawada Y, Hase Y, Fukuda Y, Tsuruhara T, Ohura T, Yamaguchi S, Aono S, Fujimoto A, Ohtake H, Miyagi T (1983) A case with argininosuccinic aciduria discovered by mass-screening test (in Japanese). Abstracts of Japanese Society of Inherited Metabolic Disease, p 62"},{"key":"2_CR234","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/S0022-3476(81)80025-X","volume":"99","author":"T Yokoi","year":"1981","unstructured":"Yokoi T, Honke K, Funabashi T, Hayashi R, Suzuki Y, Taniguchi N, Hosoya M, Saheki T (1981) Partial ornithine transcarbamylase deficiency simulating Reye syndrome. J Pediatr 99:929\u2013931","journal-title":"J Pediatr"},{"key":"2_CR235","unstructured":"Yoshida K, Watanabe M, Kida K, Matsuda H (1984) A case with hyperornithinemia, hyperammonemia and homocitrullinuria (in Japanese). Abstracts of Japanese Society of Inherited Metabolic Disease, p 105"},{"key":"2_CR236","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/978-1-4757-6903-6_15","volume":"153","author":"M Yoshino","year":"1982","unstructured":"Yoshino M, Kubota K, Yoshida I, Murakami T, Yamashita F (1982) Argininemia: report of a new case and mechanisms of orotic aciduria and hyperammonemia. Adv Exp Med Biol 153:121\u2013125","journal-title":"Adv Exp Med Biol"}],"container-title":["Reviews of Physiology, Biochemistry and Pharmacology","Reviews of Physiology, Biochemistry and Pharmacology, Volume 94"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BFb0034071","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T17:24:12Z","timestamp":1683307452000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BFb0034071"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987]]},"ISBN":["9783540117018","9783540394693"],"references-count":236,"URL":"https:\/\/doi.org\/10.1007\/bfb0034071","relation":{},"ISSN":["0303-4240","1617-5786"],"issn-type":[{"value":"0303-4240","type":"print"},{"value":"1617-5786","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987]]},"assertion":[{"value":"21 June 2005","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}