{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:20:57Z","timestamp":1787235657934,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1984,7,5]],"date-time":"1984-07-05T00:00:00Z","timestamp":457833600000},"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":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report the case of a boy with 5,10\u2010methylenetetrahydrofolate reductase deficiency. The clinical features consisted of severe mental retardation, spasticity and seizures remaining static to 7 years of age followed by a phase of rapid deterioration and death at 7 1\/2 years of age. The main biochemical findings were homocystinaemia, homocystinuria, a normal methionine level in plasma and cerebrospinal fluid, an increased excretion of methionine in urine and a very low level of folate in the cerebrospinal fluid. The activity of 5,10\u2010methylenetetrahydrofolate reductase was greatly reduced in the patient's lymphocytes and liver.<\/jats:p>","DOI":"10.1007\/bf01801662","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T19:55:39Z","timestamp":1119902139000},"page":"53-57","source":"Crossref","is-referenced-by-count":7,"title":["5,10\u2010Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case"],"prefix":"10.1002","volume":"8","author":[{"given":"E. A.","family":"Haan","sequence":"first","affiliation":[{"name":"Birth Defects Research Institute Royal Children's Hospital  Parkville, Melbourne 3052 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. G.","family":"Rogers","sequence":"additional","affiliation":[{"name":"Birth Defects Research Institute Royal Children's Hospital  Parkville, Melbourne 3052 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. P.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Children's Medical Research Foundation Royal Alexandra Hospital for Children, Camperdown  Sydney 2050 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. B.","family":"Rowe","sequence":"additional","affiliation":[{"name":"Children's Medical Research Foundation Royal Alexandra Hospital for Children, Camperdown  Sydney 2050 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1984,7,5]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"211","article-title":"Progressive neonatal leukoencephalomyopathy due to absent methylenetetrahydrofolate reductase, responsive to treatment","volume":"8","author":"Allen R. J.","year":"1980","journal-title":"Ann. 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Res."},{"key":"e_1_2_1_18_1","first-page":"419","article-title":"Interrelationships among serum folate, CSF folate, neurotransmitters and neuropsychiatric symptoms","volume":"30","author":"Singer H.","year":"1980","journal-title":"Neurology"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(65)90120-X"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)48665-6"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1542\/peds.59.5.749","article-title":"Folic acid nonresponsive homocystinuria due to methylenetetrahydrofolate reductase deficiency","volume":"59","author":"Wong P. W. 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