{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T18:16:52Z","timestamp":1757701012367},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[1994,10,1]],"date-time":"1994-10-01T00:00:00Z","timestamp":780969600000},"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":[[1994,10]]},"DOI":"10.1007\/bf01954492","type":"journal-article","created":{"date-parts":[[2005,8,2]],"date-time":"2005-08-02T07:09:36Z","timestamp":1122966576000},"page":"745-750","source":"Crossref","is-referenced-by-count":27,"title":["Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder"],"prefix":"10.1007","volume":"153","author":[{"given":"A. C.","family":"Sewell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. W.","family":"Bender","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Wirth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"M\u00fcnterfering","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Ijlist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J. A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF01954492_CR1","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF01958956","volume":"151","author":"E Bertini","year":"1992","unstructured":"Bertini E, Dionisi-Vici C, Garavaglia B, Burlina AB, Sabatelli M, Rimoldi M, Bartuli A, Sabetta G, DiDonato S (1992) Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. Eur J Pediatr 151:121\u2013126","journal-title":"Eur J Pediatr"},{"key":"BF01954492_CR2","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/0006-291X(92)90501-B","volume":"183","author":"K Carpenter","year":"1992","unstructured":"Carpenter K, Pollitt RJ, Middelton B (1992) Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria. Biochem Biophys Res Commun: 183:443\u2013448","journal-title":"Biochem Biophys Res Commun"},{"key":"BF01954492_CR3","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1172\/JCI113978","volume":"83","author":"PB Corr","year":"1989","unstructured":"Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE (1989) Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 83:927\u2013936","journal-title":"J Clin Invest"},{"key":"BF01954492_CR4","first-page":"301","volume-title":"Progress in clinical and biological research, vol 375: new developments in fatty acid oxidation","author":"F Demaugre","year":"1992","unstructured":"Demaugre F, Bonnefont J-P, Brivet M, Cepancec C, Pollitt RJ, Priestly BL, Saudubray J-M, Leroux J-P (1992) Pathophysiological approach to carnitine palmitoyltransferase II deficiencies. In: Coates PM, Tanaka K (eds). Progress in clinical and biological research, vol 375: new developments in fatty acid oxidation. Wiley-Liss, New York, pp 301\u2013309"},{"key":"BF01954492_CR5","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/S0022-3476(05)80039-3","volume":"118","author":"C Dionisi-Vici","year":"1991","unstructured":"Dionisi-Vici C, Burlina AB, Bertini E, Bachmann C, Mazziotta MRM, Zacchello F, Sabetta G, Hale DE (1991) Progressive neuropathy and recurrent myoglobinuria in a child with longchain 3-hydroxyacyl-coenzyme A deficiency. J Pediatr 118:744\u2013746","journal-title":"J Pediatr"},{"key":"BF01954492_CR6","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/BF01963564","volume":"150","author":"M Duran","year":"1991","unstructured":"Duran M, Wanders RJA, Jager JP de, Dorland L, bruinvis L, Ketting D, Iljist L, Sprang van FJ (1991) 3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. Eur J Pediatr 150:190\u2013195","journal-title":"Eur J Pediatr"},{"key":"BF01954492_CR7","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1042\/bst0070392","volume":"7","author":"M El-Fakhiri","year":"1979","unstructured":"El-Fakhiri M, Middleton B (1979) The existence of two different L-3-hydroxyacyl-coenzyme A dehydrogenases in rat tissues. Biochem Soc Trans 7: 392\u2013393","journal-title":"Biochem Soc Trans"},{"key":"BF01954492_CR8","first-page":"748","volume":"96","author":"PS Fischbach","year":"1992","unstructured":"Fischbach PS, Corr PB, Yamada KA (1992) Long-chain acylcarnitine increases intracellular Ca++ and induces after depolarisation in adult ventricular myocytes. Circulation 96:748","journal-title":"Circulation"},{"key":"BF01954492_CR9","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1093\/clinchem\/26.2.261","volume":"26","author":"J Greter","year":"1980","unstructured":"Greter J, Lindstedt S, Seeman H, Steen G (1980) 3-Hydroxydecanedioic acid and related homologues: urinary metabolites in ketoacidosis. Clin Chem 26:261\u2013265","journal-title":"Clin Chem"},{"key":"BF01954492_CR10","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0022-3476(05)82826-4","volume":"116","author":"L Hagenfeldt","year":"1990","unstructured":"Hagenfeldt L, D\u00f6blen U von, Holme E, Alm J, Brandberg G, Enocksson E, Lindberg L (1990) 3-Hydroxydicarboxylic aciduria \u2014 a fatty acid oxidation defect with severe prognosis. J Pediatr 116:387\u2013392","journal-title":"J Pediatr"},{"key":"BF01954492_CR11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0022-3476(05)82532-6","volume":"121","author":"DE Hale","year":"1992","unstructured":"Hale DE, Bennett MJ (1992) Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 121:1\u201311","journal-title":"J Pediatr"},{"key":"BF01954492_CR12","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1203\/00006450-198507000-00006","volume":"19","author":"DE Hale","year":"1985","unstructured":"Hale DE, Batshaw ML, Coates PM, Frerman FE, Goodman SI, Singh I, Stanley CA (1985) Long-chain acyl coenzyme A dehydrogenase deficiency. An inherited cause of nonketotic hypoglycemia. Pediatr Res 19: 666\u2013671","journal-title":"Pediatr Res"},{"key":"BF01954492_CR13","first-page":"503","volume-title":"Fatty acid oxidation: clinical, biochemical and molecular aspects","author":"DE Hale","year":"1990","unstructured":"Hale DE, Thorpe C, Braat K, Wright JH, Roe CR, Coates PM, Hashimoto T, Glasgow AM (1990) The L-3-hydroxyacyl-CoA dehydrogenase deficiency. In: Tanaka K, Coates PM (eds) Fatty acid oxidation: clinical, biochemical and molecular aspects. Alan R. Liss, New York, pp 503\u2013510"},{"key":"BF01954492_CR14","unstructured":"Ijlst L, Wanders RJA, Ushikubo S, Kamijo T, Hashimoto T (1993) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: new information on the mutant protein and first results of mutation analysis. Abstracts of the 31st Symposium SSIEM, Manchester P061"},{"key":"BF01954492_CR15","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1203\/00006450-199104000-00016","volume":"29","author":"S Jackson","year":"1991","unstructured":"Jackson S, Bartlett K, Land J, Moxon ER, Pollitt RJ, Leonard JV, Turnbull DM (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Pediatr Res 29:406\u2013411","journal-title":"Pediatr Res"},{"key":"BF01954492_CR16","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/BF01955905","volume":"152","author":"R Moore","year":"1993","unstructured":"Moore R, Glasgow JFT, Bingham MA, Dodge JA, Pollitt RJ, Olpin SE, Middleton B, Carpenter K (1993) Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency \u2014 diagnosis, plasma carnitine fractions and management in a further patient. Eur J Pediatr 152:433\u2013436","journal-title":"Eur J Pediatr"},{"key":"BF01954492_CR17","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1007\/BF01800227","volume":"15","author":"SE Olpin","year":"1992","unstructured":"Olpin SE, Manning NJ, Carpenter K, Middleton B, Pollitt RJ (1992) Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9, 10-3H] myristic and [9, 10-3H] palmitic acids by intact cultured fibroblasts. J Inherited Metab Dis 15:883\u2013891","journal-title":"J Inherited Metab Dis"},{"key":"BF01954492_CR18","first-page":"495","volume-title":"Fatty acid oxidation: clinical, biochemical and molecular aspects","author":"RJ Pollitt","year":"1990","unstructured":"Pollitt RJ (1990) Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic aciduria. In: Tanaka K, Coates PM (eds) Fatty acid oxidation: clinical, biochemical and molecular aspects. Alan R. Liss, New York, pp 495\u2013502"},{"issue":"Suppl 2","key":"BF01954492_CR19","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1007\/BF01811422","volume":"10","author":"RJ Pollitt","year":"1987","unstructured":"Pollitt RJ, Losty H, Westwood A (1987) 3-Hydroxydicarboxylic aciduria: a distinctive type of intermittent dicarboxylic aciduria of possible diagnostic significance. J Inherited Metab Dis 10 [Suppl 2]:266\u2013269","journal-title":"J Inherited Metab Dis"},{"issue":"suppl 2","key":"BF01954492_CR20","first-page":"183","volume":"11","author":"BT Poll-The","year":"1988","unstructured":"Poll-The BT, Bonnefont J-P, Ogier H, Charpentier C, Pelet A, Le Fur JM, Jakobs C, Kok RM, Duran M, Divry P, Scotto J, Saudubray J-M (1988) Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6\u2013C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? J Inherited Metab Dis 11 [suppl 2]:183\u2013185","journal-title":"J Inherited Metab Dis"},{"key":"BF01954492_CR21","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/BF01799642","volume":"15","author":"A Ribes","year":"1992","unstructured":"Ribes A, Riudor E, Navarro C, Boronat M, Marti M, Hale DE (1992) Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inherited metab Dis 15: 278\u2013279","journal-title":"J Inherited metab Dis"},{"key":"BF01954492_CR22","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1203\/00006450-198601000-00018","volume":"20","author":"F Rocchiccioli","year":"1986","unstructured":"Rocchiccioli F, Aubourg P, Bougneres PF (1986) Medium- and long-chain dicarboxylic aciduria in patients with Zellweger syndrome and neonatal adrenoleukodystrophy. Pediatr Res 20: 62\u201366","journal-title":"Pediatr Res"},{"key":"BF01954492_CR23","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1203\/00006450-199012000-00023","volume":"28","author":"F Rocchiccioli","year":"1990","unstructured":"Rocchiccioli F, Wanders RJA, Aubourg P, Viancy-Liaud C, Ijlst L, Fabre M, Cartier N, Bougneres P-F (1990) Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 28:657\u2013662","journal-title":"Pediatr Res"},{"key":"BF01954492_CR24","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1093\/clinchem\/37.7.1301a","volume":"37","author":"AC Sewell","year":"1991","unstructured":"Sewell AC, B\u00f6hles HJ (1991) 4-Hydroxycyclohexanecarboxylic acid: a rare compound in urinary organic acid analysis. Clin Chem 37:1301\u20131302","journal-title":"Clin Chem"},{"key":"BF01954492_CR25","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1007\/BF01957531","volume":"152","author":"AC Sewell","year":"1993","unstructured":"Sewell AC, Herwig J, B\u00f6hles HJ, Rinaldo P, Bhala A, Hale DE (1993) A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr 152:922\u2013924","journal-title":"Eur J Pediatr"},{"key":"BF01954492_CR26","first-page":"289","volume-title":"Progress in clinical and biological research, Vol 375: new developments in fatty acid oxidation","author":"CA Stanley","year":"1992","unstructured":"Stanley CA (1992) Plasma and mitochondrial membrane carnitine transport defects. In: Coates PM, Tanaka K (eds) Progress in clinical and biological research, Vol 375: new developments in fatty acid oxidation. Wiley-Liss, New York, pp 289\u2013301"},{"key":"BF01954492_CR27","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1203\/00006450-198311000-00008","volume":"17","author":"CA Stanley","year":"1983","unstructured":"Stanley CA, Hale DE, Coates PM, Hall CL, Corkey BE, Yang W, Kelley RI, Gonzales EL, Williamson JR, Baker L (1983) Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycaemia and low carnitine levels. Pediatr Res 17: 877\u2013884","journal-title":"Pediatr Res"},{"key":"BF01954492_CR28","doi-asserted-by":"crossref","first-page":"1270","DOI":"10.1002\/hep.1840060608","volume":"6","author":"WR Treem","year":"1986","unstructured":"Treem WR, Witzleben Ca, Piccoli DA, Stanley CA, Hale DE, Coates PM, Watkins JB (1986) Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome. Hepatology 6: 1270\u20131278","journal-title":"Hepatology"},{"key":"BF01954492_CR29","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/0925-4439(92)90155-G","volume":"1138","author":"RJA Wanders","year":"1992","unstructured":"Wanders RJA, Ijlst L (1992a) Fatty acid \u03b2-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients. Biochim Biophys Acta 1138: 80\u201384","journal-title":"Biochim Biophys Acta"},{"key":"BF01954492_CR30","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1007\/BF02435975","volume":"15","author":"RJA Wanders","year":"1992","unstructured":"Wanders RJA, Ijlst L (1992b) Long-chain 3-hydroxyacyl-CoA dehydrogenase in leukocytes and chorionic villus fibroblasts: potential for pre- and postnatal diagnosis. J Inherited Metab Dis 15:356\u2013358","journal-title":"J Inherited Metab Dis"},{"key":"BF01954492_CR31","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/BF01799383","volume":"13","author":"RJA Wanders","year":"1990","unstructured":"Wanders RJA, Ijlst L, Gennip AH van, Jakobs C, Jager JP de, Dorland L, Sprang FJ van, Duran M (1990) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid \u03b2-oxidation. J Inherited metab Dis 13: 311\u2013314","journal-title":"J Inherited metab Dis"},{"key":"BF01954492_CR32","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/BF01811694","volume":"14","author":"RJA Wanders","year":"1991","unstructured":"Wanders RJA, Ijlst L, Duran M, Jakobs C, Klerk JBC de, Przyrembel H, Rocchiccioli F, Aubourg P (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients. J Inherited Metab Dis 14:325\u2013328","journal-title":"J Inherited Metab Dis"},{"key":"BF01954492_CR33","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1016\/0006-291X(92)91350-Y","volume":"180","author":"RJA Wanders","year":"1992","unstructured":"Wanders RJA, Ijlst L, Poggi F, Bonnefont J-P, Munnich A, Brivet M, Rabier D, Saudubray J-M (1992) Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid oxidation. Biochem Biophys Res Commun 180:1139\u20131145","journal-title":"Biochem Biophys Res Commun"},{"key":"BF01954492_CR34","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1007\/BF01805531","volume":"12","author":"J Vamecq","year":"1989","unstructured":"Vamecq J, Draye J-P (1989) Comparison between the formation and the oxidation of dicarboxylcarnitine esters in rat liver and skeletal muscle: possible implications for human inborn disorders of mitochondrial \u03b2-oxidation. J Inherited Metab Dis 12:58\u201363","journal-title":"J Inherited Metab Dis"},{"key":"BF01954492_CR35","first-page":"111","volume":"34","author":"S Yamaguchi","year":"1993","unstructured":"Yamaguchi S, Indo Y, Coates PM, Hashimoto T, Tanaka K (1993) Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency. Eur J Pediatr 34:111\u2013113","journal-title":"Eur J Pediatr"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01954492.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF01954492\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF01954492","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T14:59:42Z","timestamp":1586357982000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF01954492"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,10]]},"references-count":35,"journal-issue":{"issue":"10","published-print":{"date-parts":[[1994,10]]}},"alternative-id":["BF01954492"],"URL":"https:\/\/doi.org\/10.1007\/bf01954492","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,10]]}}}