{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T13:49:52Z","timestamp":1725716992101},"publisher-location":"Boston, MA","reference-count":24,"publisher":"Springer US","isbn-type":[{"type":"print","value":"9781475769050"},{"type":"electronic","value":"9781475769036"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1982]]},"DOI":"10.1007\/978-1-4757-6903-6_8","type":"book-chapter","created":{"date-parts":[[2013,2,23]],"date-time":"2013-02-23T17:01:10Z","timestamp":1361638870000},"page":"53-62","source":"Crossref","is-referenced-by-count":4,"title":["Immunochemical Assay in 16 Boys with Ornithine Transcarbamylase Deficiency"],"prefix":"10.1007","author":[{"given":"B.","family":"Francois","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Briand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Cathelineau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"8_CR1","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1056\/NEJM197301042880102","volume":"288","author":"EM Short","year":"1976","unstructured":"E.M. Short, H.O. Conn, P.J. Snodgrass, A.G.M. Campbell and L.E. Rosenberg, Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency, N. Engl.J.Med. 288: 7 (1976).","journal-title":"N. Engl.J.Med."},{"key":"8_CR2","first-page":"332","volume":"28","author":"FC Ricciuti","year":"1976","unstructured":"F.C. Ricciuti, T.D. Gelchrler and L.E. Rosenberg, X chromosome inactivation in human liver; confirmation of X linkage of ornithine transcarbamylase, Am.J.Hum.Genet. 28: 332 (1976).","journal-title":"Am.J.Hum.Genet."},{"key":"8_CR3","volume-title":"The metabolic basis of inherited disease","author":"VE Shih","year":"1978","unstructured":"V.E. Shih, Urea cycle disorders and other congenital hyperammonemic syndromes. In: \u201cThe metabolic basis of inherited disease.\u201dJ.B. Stanbury, J.B. Wyngaarden and D.S.Fredrickson, eds., Mc Graw-Hill, New-York (1978)."},{"key":"8_CR4","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1136\/adc.44.234.162","volume":"44","author":"B Levin","year":"1969","unstructured":"B. Levin, R.H. Dobbs, E.A. Burgess and T. Palmer, Hyperammonemia. A variant type of deficiency of liver ornithine transcarbamylase, Arch.Dis.Childr. 44: 162 (1969).","journal-title":"Arch.Dis.Childr."},{"key":"8_CR5","first-page":"405","volume":"197","author":"P Leod","year":"1972","unstructured":"P. Mc Leod, S. Mackenzie and C.R. Scriver, Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant. Canad. Med. Ass. J. 197: 405 (1972).","journal-title":"Canad. Med. Ass. J."},{"key":"8_CR6","volume-title":"Le cycle de lur\u00e9e et ses anomalies","author":"JP Farriaux","year":"1978","unstructured":"J. P. Farriaux, Le d\u00e9ficit en ornithine carbamyl transferase ou hyperammoni\u00e9mie de type II. In: \u201cLe cycle de l\u2019ur\u00e9e et ses anomalies\u201d, G. Fontaine et J.P. Farriaux, eds., Doin, Paris (1978)."},{"key":"8_CR7","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/S0140-6736(74)91819-4","volume":"11","author":"M Thaler","year":"1974","unstructured":"M. Thaler, N. Hoogenraad and M. Boswell, Reye\u2019s syndrome due to a novel protein-tolerant variant of ornithine, Lancet. 11: 438 (1974).","journal-title":"Lancet"},{"key":"8_CR8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1159\/000459417","volume":"41","author":"L Cathelineau","year":"1974","unstructured":"L. Cathelineau, J.M. Saudubray and C. Polonovski, Heterogenous mutations of the structural gene of human ornithine carbamyl transferase as observed in five personal cases, Enzyme 41: 103 (1974).","journal-title":"Enzyme"},{"key":"8_CR9","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1111\/j.1651-2227.1975.tb03866.x","volume":"64","author":"JM Saudubray","year":"1975","unstructured":"J. M. Saudubray, L. Cathelineau, J. M. Laugier, C. Charpentier, J.A. Lejeune and P. Mozziconacci, Hereditary ornithine transcarbamylase deficiency, Acta Pediat.Scand. 64: 464 (1975).","journal-title":"Acta Pediat.Scand."},{"key":"8_CR10","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/0009-8981(77)90146-2","volume":"80","author":"C Heiden","year":"1977","unstructured":"C. Van der Heiden, J. Desplanques and H.D. Bakker, Some kinetic properties of liver ornithine carbamyl transferase (OTC) in a patient with OTC deficiency, Clin.Chim.Acta. 80: 519 (1977).","journal-title":"Clin.Chim.Acta."},{"key":"8_CR11","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1210\/jcem-48-4-566","volume":"48","author":"L Krieger","year":"1979","unstructured":"L. Krieger, J.P. Snodgrass, J. Roskanys, A typical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye\u2019s disease), J.Clin.Endocrinol.Metab. 48: 388 (1979).","journal-title":"J.Clin.Endocrinol.Metab."},{"key":"8_CR12","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/0005-2744(80)90165-5","volume":"614","author":"L Cathelineau","year":"1980","unstructured":"L. Cathelineau, P. Briand, F. Petit, J.P. Nuyts, J.P. Farriaux and P. Kamoun, Kinetic analysis of a new human ornithine carbamoyl transferase variant, Biochem.Biophys.Acta 614: 40 (1980).","journal-title":"Biochem.Biophys.Acta"},{"key":"8_CR13","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/S0022-3476(80)80694-9","volume":"96","author":"M Yudkoff","year":"1980","unstructured":"M. Yudkoff, W. Yang, P.J. Snodgrass and S. Segal, Ornithine transcarbamylase deficiency in a boy with normal development, J. Pediatr. 96: 441 (1980).","journal-title":"J. Pediatr."},{"key":"8_CR14","volume-title":"Res","author":"P Landrieu","year":"1981","unstructured":"P. Landrieu, B. Fran\u00e7ois, G. Lyon and F. Van Hoof, Liver peroxisomal damage during acute hepatic failure in partial ornithine transcarbamylase deficiency, Submitted to Ped. Res. (1981)."},{"key":"8_CR15","doi-asserted-by":"publisher","first-page":"3047","DOI":"10.1021\/bi00849a004","volume":"7","author":"PJ Snodgrass","year":"1968","unstructured":"P. J. Snodgrass, The effects of pH on the kinetics of human liver ornithine carbamyl phosphate transferase, Biochemistry 7: 3047 (1968).","journal-title":"Biochemistry"},{"key":"8_CR16","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1093\/ajcp\/28.6_ts.681","volume":"28","author":"WH Marsh","year":"1957","unstructured":"W. H. Marsh, B. Fignehut and E. Kirsh, Determination of urea nitrogen with the diacetyl method and an automatic dialyzing apparatus, Am.J.Clin.Pathol. 28: 681 (1957).","journal-title":"Am.J.Clin.Pathol."},{"key":"8_CR17","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/0009-8981(66)90064-7","volume":"14","author":"LG Ceriotti","year":"1966","unstructured":"L. G. Ceriotti and A. Gazzaniga, A sensitive method for serum ornithine-carbamyl-transferase determination, Clin. Chim. Acta 14: 57 (1966).","journal-title":"Clin. Chim. Acta"},{"key":"8_CR18","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","volume":"193","author":"OH Lowry","year":"1951","unstructured":"O. H. Lowry, N.H. Rosebrough, A.L. Farr and R.J. Randall, Protein measurement with the Folin phenol reagent. J.Biol.Chem. 193: 265 (1951).","journal-title":"J.Biol.Chem."},{"key":"8_CR19","volume-title":"Practical Immunology","author":"L Hudson","year":"1976","unstructured":"L. Hudson and F.C. Hay, \u201cPractical Immunology\u201d, Blackwell Scientific Publication, Oxford (1976)."},{"key":"8_CR20","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/0019-2791(65)90004-2","volume":"2","author":"G Mancini","year":"1965","unstructured":"G. Mancini, A.O. Carbonara, J.F. Heremans, Immunochemical quantification of antigens by single radial immuno diffusion, Immunochemistry 2: 235 (1965).","journal-title":"Immunochemistry"},{"key":"8_CR21","doi-asserted-by":"crossref","first-page":"3939","DOI":"10.1016\/S0021-9258(17)34781-6","volume":"253","author":"F Kalousek","year":"1978","unstructured":"F. Kalousek, B. Fran\u00e7ois and L. Rosenberg, Isolation and characterization of ornithine transcarbamylase from normal human liver, J.Biol.Chem. 253: 3939 (1978).","journal-title":"J.Biol.Chem."},{"key":"8_CR22","doi-asserted-by":"crossref","first-page":"5724","DOI":"10.1073\/pnas.76.11.5724","volume":"76","author":"J. G. Conboy","year":"1979","unstructured":"J. G. Conboy, F. Kalousek and L.E. Rosenberg, In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamoylase, Proc. Natl. Acad. Sci. USA 76:5724 (1979).","journal-title":"Natl. Acad. Sci. USA"},{"key":"8_CR23","doi-asserted-by":"publisher","first-page":"7044","DOI":"10.1073\/pnas.77.12.7044","volume":"77","author":"M Mori","year":"1980","unstructured":"M. Mori, S. Miura, M. Tatibana and P.P. Cohen, Characterization of a protease apparently involved in processing of pre-ornithine transcarbamylase of rat liver, Proc. Natl. Acad.Sci.USA 77: 7044 (1980).","journal-title":"Proc. Natl. Acad.Sci.USA"},{"key":"8_CR24","doi-asserted-by":"crossref","first-page":"1829","DOI":"10.1093\/oxfordjournals.jbchem.a133158","volume":"88","author":"M Mori","year":"1980","unstructured":"M. Mori, S. Miura, M. Tatibana and P.P. Cohe, Processing of a putative percursor of rat liver ornithine transcarbamylase, a mitochondrial matrix enzyme, J.Biochem. (Tokyo) 88: 1829 (1980).","journal-title":"J.Biochem. (Tokyo)"}],"container-title":["Advances in Experimental Medicine and Biology","Urea Cycle Diseases"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4757-6903-6_8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T10:32:00Z","timestamp":1644402720000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4757-6903-6_8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982]]},"ISBN":["9781475769050","9781475769036"],"references-count":24,"URL":"https:\/\/doi.org\/10.1007\/978-1-4757-6903-6_8","relation":{},"ISSN":["0065-2598"],"issn-type":[{"type":"print","value":"0065-2598"}],"subject":[],"published":{"date-parts":[[1982]]}}}