{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:15:53Z","timestamp":1771002953952,"version":"3.50.1"},"reference-count":8,"publisher":"Tohoku University Medical Press","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Tohoku J. Exp. Med."],"published-print":{"date-parts":[[2012]]},"DOI":"10.1620\/tjem.227.69","type":"journal-article","created":{"date-parts":[[2012,5,24]],"date-time":"2012-05-24T06:45:30Z","timestamp":1337841930000},"page":"69-72","source":"Crossref","is-referenced-by-count":17,"title":["Two Novel Mutations in the Lactase Gene in a Japanese Infant with Congenital Lactase Deficiency"],"prefix":"10.1620","volume":"227","author":[{"given":"Nao","family":"Uchida","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tohoku University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Irie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daiki","family":"Abukawa","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics and Pathology, Miyagi Children's Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junji","family":"Takeyama","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics and Pathology, Miyagi Children's Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Tsuchiya","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tohoku University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"622","reference":[{"key":"1","unstructured":"Akabane, J. (1965) Lactose Intorelance. <i>The Jounal of Pediatric Practice<\/i>, <b>28<\/b>, 697-703 (in Japanese)."},{"key":"2","doi-asserted-by":"crossref","unstructured":"Behrendt, M., Keiser, M., Hoch, M. &amp; Naim, H.Y. (2009) Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency. <i>Gastroenterology<\/i>, <b>136<\/b>, 2295-2303.","DOI":"10.1053\/j.gastro.2009.01.041"},{"key":"3","unstructured":"Heyman, M.B. (2006) Committee on Nutrition. Lactose intolerance in infants, children, and adolescents. <i>Pediatrics<\/i>, <b>118<\/b>, 1279-1286."},{"key":"4","unstructured":"J&auml;rvel&auml;, I., Enattah, N.S., Kokkonen, J., Varilo, T., Savilahti, E. &amp; Peltonen, L. (1998) Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene. <i>Am. J. Hum. Genet<\/i>., <b>63<\/b>, 1078-1085."},{"key":"5","unstructured":"Nose, O., Iida, Y., Kai, H., Harada, T., Ogawa, M. &amp; Yabuuchi, H. (1979) Breath hydrogen test for detecting lactose malabsorption in infants and children. Prevalence of lactose malabsorption in Japanese children and adults. <i>Arch. Dis. Child<\/i>., <b>54<\/b>, 436-440."},{"key":"6","doi-asserted-by":"crossref","unstructured":"Savilahti, E., Launiala, K. &amp; Kuitunen, P. (1983) Congenital lactase deficiency. A clinical study on 16 patients. <i>Arch. Dis. Child<\/i>., <b>58<\/b>, 246-252.","DOI":"10.1136\/adc.58.4.246"},{"key":"7","doi-asserted-by":"crossref","unstructured":"Torniainen, S., Freddara, R., Routi, T., Gijsbers, C., Catassi, C., H&ouml;glund, P., Savilahti, E. &amp; J&auml;rvel&auml;, I. (2009) Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD). <i>BMC Gastroenterol<\/i>., <b>9<\/b>, 8.","DOI":"10.1186\/1471-230X-9-8"},{"key":"8","unstructured":"Yabuuchi, H., Ishii, T. &amp; Iida, Y. (1966) A case report of lactase insufficiency. <i>The Journal of Pediatric Practice<\/i>, <b>29<\/b>, 1058-1063 (in Japanese)."}],"container-title":["The Tohoku Journal of Experimental Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/227\/1\/227_69\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,16]],"date-time":"2022-01-16T05:25:32Z","timestamp":1642310732000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/tjem\/227\/1\/227_69\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.1620\/tjem.227.69","relation":{},"ISSN":["0040-8727","1349-3329"],"issn-type":[{"value":"0040-8727","type":"print"},{"value":"1349-3329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}