{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:23:58Z","timestamp":1791937438854,"version":"4.3.4"},"reference-count":11,"publisher":"BMJ","issue":"3 Spec No","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1993,9,1]]},"DOI":"10.1136\/adc.69.3_spec_no.292","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T22:39:16Z","timestamp":1229985556000},"page":"292-294","source":"Crossref","is-referenced-by-count":43,"title":["Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency."],"prefix":"10.1136","volume":"69","author":[{"given":"B","family":"Wilcken","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K H","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Hammond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1007\/BF01954373","article-title":"Medium-chain acylCoA dehydrogenase deficiency: metabolic aspects","volume":"151","author":"Matsubara, Y.; Narisawa, K.; Tada, K.","year":"1992","unstructured":"Matsubara Y, Narisawa K, Tada K. Medium-chain acylCoA dehydrogenase deficiency: metabolic aspects. Eur J Pediatr 1992; 151: 154-9.","journal-title":"Eur J Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/978-3-662-02613-7_31","article-title":"Disorders offatty acid oxidation","volume-title":"metabolic diseases","author":"Stanley, C.A.","year":"1990","unstructured":"Stanley CA. Disorders offatty acid oxidation. In: Femandes J, Saudubray J-M, Tada K, eds. Inborn metabolic diseases. Berlin: Springer-Verlag, 1990: 395-410."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1136\/adc.67.1.142","article-title":"Median chain acyl-CoA dehydrogenase deficiency","volume":"67","author":"Touma, E.H.; Charpentier, C.","year":"1992","unstructured":"Touma EH, Charpentier C. Median chain acyl-CoA dehydrogenase deficiency. Arch Dis Child 1992; 67: 142-5.","journal-title":"Arch Dis Child"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1177\/000456329002700602","article-title":"The laboratory diagnosis of inbom errors of mitochondrial fatty acid oxidation","volume":"27","author":"Bennett, M.J.","year":"1990","unstructured":"Bennett MJ. The laboratory diagnosis of inbom errors of mitochondrial fatty acid oxidation. Ann Clin Biochem 1990;27: 519-31.","journal-title":"Ann Clin Biochem"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/S0387-7604(88)80084-6","article-title":"Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings","volume":"10","author":"Nobukuni, Y.; Yokoo, T.; Ohtani, Y.","year":"1988","unstructured":"Nobukuni Y, Yokoo T, Ohtani Y, et al. Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings. Brain Dev 1988; 10: 129-34.","journal-title":"Brain Dev"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1007\/BF01957697","article-title":"Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings","volume":"149","author":"Catzeflis, C.; Bachmann, C.; Hale, D.E.","year":"1990","unstructured":"Catzeflis C, Bachmann C, Hale DE, et al. Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings. Eur J Pediatr 1990; 149: 577-81.","journal-title":"Eur J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1177\/000456329002700314","article-title":"Diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in an asymptomatic neonate","volume":"27","author":"Walker, V.; Mills, G.A.; Weavind, G.P.; Hall, M.A.; Johnston, P.G.B.","year":"1990","unstructured":"Walker V, Mills GA, Weavind GP, Hall MA, Johnston PGB. Diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency in an asymptomatic neonate. Ann Clin Biochem 1990; 27: 267-9.","journal-title":"Ann Clin Biochem"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/S0022-3476(05)80353-1","article-title":"A fatal neonatal case of mediumchain acyl-coenzyme A dehydrogenase deficiency with homozygous A-G985 transition","volume":"121","author":"Leung, K.-C.; Hammond, J.W.; Chabra, S.; Carpenter, K.H.; Potter, M.; Wilcken, B.","year":"1992","unstructured":"Leung K-C, Hammond JW, Chabra S, Carpenter KH, Potter M, Wilcken B. A fatal neonatal case of mediumchain acyl-coenzyme A dehydrogenase deficiency with homozygous A-G985 transition. J Pediatr 1992; 121: 965-8.","journal-title":"J Pediatr"},{"key":"ref_9","doi-asserted-by":"crossref","DOI":"10.1007\/978-94-009-1259-5_37","article-title":"The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency","volume":"11","author":"Seakins, J.W.T.; Rumsby, G.","year":"1988","unstructured":"Seakins JWT, Rumsby G. The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency. JX Inherited Metab Dis 1988; 11 (suppl","journal-title":"JX Inherited Metab Dis"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/0009-8981(79)90183-9","article-title":"Dicarboxylic aciduria: the response to fasting","volume":"94","author":"Truscott, R.J.W.; Hick, L.; Pullin, C.; Halpem, B.; Wilcken, B.; Griffiths, H.","year":"1979","unstructured":"Truscott RJW, Hick L, Pullin C, Halpem B, Wilcken B, Griffiths H. Dicarboxylic aciduria: the response to fasting. Clin Chim Acta 1979; 94: 31-4.","journal-title":"Clin Chim Acta"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/0140-6736(91)91110-G","article-title":"Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards","volume":"338","author":"Matsubara, Y.; Narisawa, K.; Tada, K.","year":"1991","unstructured":"Matsubara Y, Narisawa K, Tada K, et al. Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet 1991; 338: 552-3.","journal-title":"Lancet"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.69.3_Spec_No.292","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,25]],"date-time":"2020-09-25T21:42:18Z","timestamp":1601070138000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.69.3_Spec_No.292"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9,1]]},"references-count":11,"journal-issue":{"issue":"3 Spec No","published-print":{"date-parts":[[1993,9,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.69.3_spec_no.292","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9,1]]}}}