{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T13:36:23Z","timestamp":1765632983471,"version":"3.48.0"},"reference-count":7,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gut"],"published-print":{"date-parts":[[1971,11]]},"abstract":"<jats:p>A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption.<\/jats:p>\n                  <jats:p>At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.<\/jats:p>","DOI":"10.1136\/gut.12.11.929","type":"journal-article","created":{"date-parts":[[2007,9,18]],"date-time":"2007-09-18T17:41:31Z","timestamp":1190137291000},"page":"929-932","source":"Crossref","is-referenced-by-count":10,"title":["High liver glycogen in hereditary fructose intolerance"],"prefix":"10.1136","volume":"12","author":[{"given":"A. R. R.","family":"Cain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda E.","family":"Ryman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1971,11,1]]},"reference":[{"key":"ref_1","article-title":"Carbohydrate Metabolism and its Disorders","volume":"2","author":"Dickens, F.; Randle, P.J.; Whelan, W.J.","year":"1968","unstructured":"Dickens, F., Randle, P. J., and Whelan, W. J. (1968). Carbohydrate Metabolism and its Disorders; Vol. 2. Academic Press, London and New York."},{"key":"ref_2","first-page":"124","article-title":"Essential fructosuria and hereditary fructose intolerance","volume-title":"The Metabolic Basis of Inherited Disease","author":"Froesch, E.R.","year":"1966","unstructured":"Froesch, E. R. (1966). Essential fructosuria and hereditary fructose intolerance. In The Metabolic Basis of Inherited Disease, edited by J. B. Stanbury, J. B. Wyngaarden, and D. S. Fredrickson, 2nd ed; pp 124-140. McGraw-Hill, New York, Toronto, Sydney, and London.","edition":"2nd ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/S0140-6736(70)91496-0","article-title":"Intestinal transport of fructose","volume":"2","author":"Gracey, M.; Burke, V.; Oshin, A.","year":"1970","unstructured":"Gracey, M., Burke, V., and Oshin, A. (1970). Intestinal transport of fructose. Lancet, 2, 827-828.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1136\/jnnp.31.3.268","article-title":"Contracture of phosphorylase deficient muscle","volume":"31","year":"1968","unstructured":"Gruener, R., McArdle, B., Ryman, B. E., and Weller, R. 0. (1968). Contracture of phosphorylase deficient muscle. Neurol. Neurosurg. Psychiat., 31, 268-283.","journal-title":"Neurol. Neurosurg. Psychiat"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1159\/000458107","article-title":"Anomalie de l'aldolase h6patique dans l'intolerance au fructose","volume":"1","author":"Hers, H.G.; Joassin, G.","year":"1961","unstructured":"Hers, H. G., and Joassin, G. (1961). Anomalie de l'aldolase h6patique dans l'intolerance au fructose. Enzym. biol. clin., 1, 4-14.","journal-title":"Enzym. biol. clin"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/j.1651-2227.1968.tb07281.x","article-title":"Hereditary fructose intolerance in four swedish families","volume":"57","author":"Kohlin, P.; Melin, K.","year":"1968","unstructured":"Kohlin, P., and Melin, K. (1968). Hereditary fructose intolerance in four swedish families. Acta paediat. scand., 57, 24-32.","journal-title":"Acta paediat. scand"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"160162","DOI":"10.1016\/0009-8981(63)90218-3","article-title":"An improved micromethod for the determination of glucose 6-phosphate activity","volume":"8","author":"Ricketts, T.R.","year":"1963","unstructured":"Ricketts, T. R. (1963). An improved micromethod for the determination of glucose 6-phosphate activity. Clin. chim. acta, 8, 160162.","journal-title":"Clin. chim. acta"}],"container-title":["Gut"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/gut.12.11.929","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T13:32:54Z","timestamp":1765632774000},"score":1,"resource":{"primary":{"URL":"https:\/\/gut.bmj.com\/lookup\/doi\/10.1136\/gut.12.11.929"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1971,11]]},"references-count":7,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1971,11,1]]},"published-print":{"date-parts":[[1971,11]]}},"alternative-id":["10.1136\/gut.12.11.929"],"URL":"https:\/\/doi.org\/10.1136\/gut.12.11.929","relation":{},"ISSN":["0017-5749","1468-3288"],"issn-type":[{"type":"print","value":"0017-5749"},{"type":"electronic","value":"1468-3288"}],"subject":[],"published":{"date-parts":[[1971,11]]}}}