{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T14:56:57Z","timestamp":1726412217673},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1994,4,1]],"date-time":"1994-04-01T00:00:00Z","timestamp":765158400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[1994,4]]},"DOI":"10.1007\/bf01954516","type":"journal-article","created":{"date-parts":[[2005,7,29]],"date-time":"2005-07-29T22:31:28Z","timestamp":1122676288000},"page":"264-266","source":"Crossref","is-referenced-by-count":4,"title":["Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency"],"prefix":"10.1007","volume":"153","author":[{"given":"R. P.","family":"Beekman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Hofstee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A. M.","family":"Smeitink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. T.","family":"Poll-The","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Duran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF01954516_CR1","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1177\/088307389100600216","volume":"6","author":"SB Coker","year":"1991","unstructured":"Coker SB, Melnyk AR (1991) Rett Syndrome and mitochondrial enzyme deficiencies. J Child Neurol 6: 164\u2013166","journal-title":"J Child Neurol"},{"key":"BF01954516_CR2","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1016\/S0022-3476(86)80298-0","volume":"78","author":"M Duran","year":"1986","unstructured":"Duran M, Hofkamp M, Rhead WJ, Saudubray JM, Wadman SK (1986) Sudden child death and \u2018healthy\u2019 affected famliy members with medium-chain acyl-coenzyme A dehydrogenase deficiency. Pediatrics 78: 1052\u20131057","journal-title":"Pediatrics"},{"key":"BF01954516_CR3","first-page":"419","volume-title":"Enzymes of fatty acid oxidation and their genetic defects","author":"M Duran","year":"1990","unstructured":"Duran M, Vossen R van, Bruinvis L, Ketting D, Dorland L, Klerk JBC de (1990) The fate of orally ingested 3-phenyl-propionic acid. In: Tanaka K, Coates PM (eds) Enzymes of fatty acid oxidation and their genetic defects. Alan R Liss, New York, pp 419\u2013426"},{"key":"BF01954516_CR4","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1203\/00006450-199201000-00007","volume":"31","author":"M Duran","year":"1992","unstructured":"Duran M, Cleutjens CBJM, Ketting D, Dorland L, Klerk JBC de, Sprang FJ van, Berger R (1992) Diagnosis of mediumchain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation. Pediatr Res 31: 39\u201342","journal-title":"Pediatr Res"},{"key":"BF01954516_CR5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S0387-7604(88)80010-X","volume":"10","author":"O Eeg-Olofsson","year":"1988","unstructured":"Eeg-Olofsson O, Al-Zuhair AGH, Teebi AS, Al-Essa MMN (1988) Abnormal mitochondria in the rett syndrome. Brain Dev 10: 260\u2013262","journal-title":"Brain Dev"},{"key":"BF01954516_CR6","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1007\/BF00201539","volume":"86","author":"N Gregersen","year":"1991","unstructured":"Gregersen N, Andresen BS, Bross P, Winter V, R\u00fcdiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kolvraa S, Bolund L, Ghisla S (1991) Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. Hum Genet 86: 545\u2013551","journal-title":"Hum Genet"},{"key":"BF01954516_CR7","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ana.410140412","volume":"14","author":"B Hagberg","year":"1983","unstructured":"Hagberg B, Aicardi J, Dias K, Ramos O (1983) A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14: 471\u2013479","journal-title":"Ann Neurol"},{"issue":"suppl","key":"BF01954516_CR8","first-page":"S151","volume":"14","author":"B Hagberg","year":"1992","unstructured":"Hagberg B, Naidu S, Percy AK (1992) Tokyo Symposium on the Rett syndrome: neurobiological approach. Brain Dev 14(suppl): S151-S153","journal-title":"Brain Dev"},{"key":"BF01954516_CR9","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/0003-2697(90)90080-S","volume":"186","author":"TC Lehman","year":"1990","unstructured":"Lehman TC, Hale DE, Bhala A, Thorpe C (1990) An acylcoenzyme A dehydrogenase assay using the ferricenium ion. Anal Biochem. 186: 280\u2013284","journal-title":"Anal Biochem."},{"key":"BF01954516_CR10","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1007\/BF01954373","volume":"151","author":"Y Matsubara","year":"1992","unstructured":"Matsubara Y, Narisawa K, Tada K (1992) Medium-chain acyl-CoA dehydrogenase deficiency: molucular aspects. Eur J Pediatr 151: 154\u2013159","journal-title":"Eur J Pediatr"},{"key":"BF01954516_CR11","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ana.410230432","volume":"23","author":"The Rett Syndrome Diagnostic Workgroup","year":"1988","unstructured":"The Rett Syndrome Diagnostic Workgroup (1988) Diagnostic criteria for Rett syndrome. Ann Neurol 23: 425\u2013428","journal-title":"Ann Neurol"},{"key":"BF01954516_CR12","first-page":"889","volume-title":"The metabolic basis of inherited disease","author":"CR Roe","year":"1989","unstructured":"Roe CR, Coates PM (1989) Acyl-CoA dehydrogenase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 889\u2013914"},{"key":"BF01954516_CR13","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1136\/adc.67.1.142","volume":"67","author":"EH Touma","year":"1992","unstructured":"Touma EH, Charpentier C (1992) Medium-chain acyl-CoA dehydrogenase deficiency. Arch Dis Child 67: 142\u2013145","journal-title":"Arch Dis Child"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01954516.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF01954516\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01954516","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T17:13:33Z","timestamp":1557767613000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF01954516"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,4]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,4]]}},"alternative-id":["BF01954516"],"URL":"https:\/\/doi.org\/10.1007\/bf01954516","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"type":"print","value":"0340-6199"},{"type":"electronic","value":"1432-1076"}],"subject":[],"published":{"date-parts":[[1994,4]]}}}