{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T14:40:04Z","timestamp":1772894404535,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"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":[[2005,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report on two Japanese brothers with hereditary deficiency in \u03b3\u2010glutamyl transpeptidase. The propositus was 48 years old when he first visited our medical center and had a 51\u2010year\u2010old brother. The brothers were both tall and slender and had long limbs; the younger was diagnosed as having Marfan syndrome. Both patients both showed a tendency to retarded mental development. \u03b3\u2010Glutamyltranspeptidase activity was below the detection limit of 1 IU\/L in both patients. Glutathionaemia and glutathionuria were evident in both brothers. The analyses of sulphydryl compounds in the plasma (and serum for certain test items) and urine indicated high concentrations of glutathione, \u03b3\u2010glutamylcysteine, cysteine and cysteinylglycine. Urine amino acid analysis on an automatic analyser showed a slightly increased excretion of cystine and a large peak in the citrulline position due, at least in part, to thio\u2010compounds.<\/jats:p>","DOI":"10.1007\/s10545-005-4417-8","type":"journal-article","created":{"date-parts":[[2005,2,8]],"date-time":"2005-02-08T17:14:47Z","timestamp":1107882887000},"page":"49-55","source":"Crossref","is-referenced-by-count":16,"title":["Two Japanese brothers with hereditary \u03b3\u2010glutamyl transpeptidase deficiency"],"prefix":"10.1002","volume":"28","author":[{"given":"M.","family":"Iida","sequence":"first","affiliation":[{"name":"Laboratory Saitama Cardiovascular and Respiratory Center Saitama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Yasuhara","sequence":"additional","affiliation":[{"name":"Junior College of Tokyo University of Agriculture Setagaya Tokyo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Mochizuki","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Metabolism Saitama Children's Medical Center Saitama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Takakura","sequence":"additional","affiliation":[{"name":"Cardiovascular Surgery Saitama Cardiovascular and Respiratory Center Saitama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Yanagisawa","sequence":"additional","affiliation":[{"name":"Internal Medicine Saitama Cardiovascular and Respiratory Center Saitama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Kubo","sequence":"additional","affiliation":[{"name":"School of Pharmaceutical Sciences Kitasato University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,1]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90970-6"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3384"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711381"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.19.12560"},{"key":"e_1_2_1_6_1","first-page":"578","article-title":"An abnormal sulphydryl compound in urine","volume":"7","author":"O'Daly S","year":"1968","journal-title":"Irish J Med Sci"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(75)80062-3"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1021\/ac9802630"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01805554"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4417-8","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-4417-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:47:47Z","timestamp":1694742467000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-4417-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1007\/s10545-005-4417-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-4417-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1]]}}}