{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:04:32Z","timestamp":1779321872091,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1985,3,1]],"date-time":"1985-03-01T00:00:00Z","timestamp":478483200000},"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":[[1985,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Three different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus. The amounts of thiamine which were used for long\u2010term treatment varied from 20 to 2400 mg day<jats:sup>\u22121<\/jats:sup>. Additional treatment, such as the reduction of dietary branched chain amino acids in MSUD, could not be omitted in some cases. It has been shown that the vitamin improves the stability of the branched chain ketoacid decarboxylase, although some weeks may be needed to observe the<jats:italic>in vivo<\/jats:italic> effect of treatment. A prolonged trial with high doses of thiamine should always be given.<\/jats:p>","DOI":"10.1007\/bf01800663","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:27:50Z","timestamp":1119374870000},"page":"70-75","source":"Crossref","is-referenced-by-count":32,"title":["Thiamine\u2010responsive inborn errors of metabolism"],"prefix":"10.1002","volume":"8","author":[{"given":"M.","family":"Duran","sequence":"first","affiliation":[{"name":"University Children's Hospital, \u2018Het Wilhelmina Kinderziekenhuis\u2019  Nieuwe Gracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. K.","family":"Wadman","sequence":"additional","affiliation":[{"name":"University Children's Hospital, \u2018Het Wilhelmina Kinderziekenhuis\u2019  Nieuwe Gracht 137 Utrecht 3512 LK The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1985,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"393","article-title":"Intermittent ataxia with pyruvate decarboxylase deficiency","volume":"18","author":"Blass J. P.","year":"1970","journal-title":"Clin. Res."},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1542\/peds.50.5.702","article-title":"Thiamine\u2010responsive lactic acidosis in a patient with deficient low\u2010K\n                  m pyruvate carboxylase activity in liver","volume":"50","author":"Brunette M. 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