{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:40:03Z","timestamp":1760769603672,"version":"build-2065373602"},"reference-count":16,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,8]]},"abstract":"<jats:p>Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haemolytic favism. To test the hypothesis that an autosomal enzyme is involved in the pathogenesis of favism, we carried out a beta-glucosidase assay in small intestine biopsies from normal subjects and G6PD deficient subjects with or without favism. Beta-glucosidase might be involved in the absorption and metabolism of fava beans and a quantitative polymorphism could explain the different susceptibility to fava beans of G6PD deficient subjects. Our observation showed no consistent quantitative polymorphism of beta-glucosidase in the subjects examined.<\/jats:p>","DOI":"10.1136\/jmg.21.4.278","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"278-280","source":"Crossref","is-referenced-by-count":7,"title":["Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency."],"prefix":"10.1136","volume":"21","author":[{"given":"C","family":"Mareni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Repetto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Forteleoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Meloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G F","family":"Gaetani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,8,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Glucose-6-phosphate dehydrogenase. 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Red Cell Metabolism 1981;55:725-44.","journal-title":"Red Cell Metabolism"},{"key":"ref_10","first-page":"747","article-title":"The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of 3-glucosidase activity in peripheral leukocytes","volume":"76","author":"Beutler, E.; Kuhl, W.","year":"1970","unstructured":"Beutler E, Kuhl W. The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of 3-glucosidase activity in peripheral leukocytes. JLab Clin Med 1970;76:747-55.","journal-title":"JLab Clin Med"},{"article-title":"Standardization of procedures for study of glucose-6-phosphate dehydrogenase. WHO Technical Report Series, 1976: No 366","author":"Organization, World Health","key":"ref_11","unstructured":"World Health Organization. Standardization of procedures for study of glucose-6-phosphate dehydrogenase. 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