{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:17:34Z","timestamp":1760980654151},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1978,6,11]],"date-time":"1978-06-11T00:00:00Z","timestamp":266371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1979,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 7 1\/2\u2010year\u2010old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental retardation, cerebellar ataxia and both abnormal hair and skin. Argininosuccinate lyase activity in the erythrocytes of his parents and his sister was in the range expected for heterozygotes. The patient was put on a low protein diet with arginine supplementation and improved clinically and biochemically on this regime. The variability of the phenotypic expression of argininosuccinate lyase deficiency is stressed.<\/jats:p>","DOI":"10.1007\/bf01805556","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T21:51:25Z","timestamp":1119909085000},"page":"13-14","source":"Crossref","is-referenced-by-count":10,"title":["Mild variant of argininosuccinic aciduria"],"prefix":"10.1002","volume":"2","author":[{"given":"R. B. H.","family":"Schutgens","sequence":"first","affiliation":[{"name":"Paediatric Clinic Academic Hospital University of Amsterdam, Binnengasthuis  Grimburgwal 10 Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. A.","family":"Beemer","sequence":"additional","affiliation":[{"name":"Paediatric Clinic Academic Hospital University of Amsterdam, Binnengasthuis  Grimburgwal 10 Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. H. H.","family":"Tegelaers","sequence":"additional","affiliation":[{"name":"Paediatric Clinic Academic Hospital University of Amsterdam, Binnengasthuis  Grimburgwal 10 Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. P.","family":"de Groot","sequence":"additional","affiliation":[{"name":"Department of Dermatology Free University of Amsterdam  The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1978,6,11]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"119","volume-title":"Enzymopenic anaemias, lysosomes and other papers. Proceedings of the 6th Symposium of the Society for the Study of Inborn Errors of Metabolism","author":"Colombo J. P.","year":"1969"},{"key":"e_1_2_1_3_1","volume-title":"Inheritable Disorders of Connective Tissue","author":"McKusick V. A.","year":"1972"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/21.2.230"},{"key":"e_1_2_1_5_1","first-page":"424","article-title":"Argininosuccinic aciduria detected by routine screening","volume":"10","author":"Shih V. E.","year":"1976","journal-title":"Pediatr. Res."},{"key":"e_1_2_1_6_1","first-page":"261","article-title":"Argininosuccinic aciduria. Argininosuccinase and arginase in human blood cells","volume":"26","author":"Takohara K.","year":"1967","journal-title":"Clin. Sci."},{"key":"e_1_2_1_7_1","first-page":"407","article-title":"Lethal neonatal argininosuccinate lyase deficiency in four children from one sibship","volume":"31","author":"Heiden C.","year":"1976","journal-title":"Helv. Paediatr. Acta"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01805556","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T23:15:50Z","timestamp":1694906150000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01805556"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,6,11]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1979,3]]}},"alternative-id":["10.1007\/BF01805556"],"URL":"https:\/\/doi.org\/10.1007\/bf01805556","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,6,11]]}}}