{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T15:39:30Z","timestamp":1790869170176,"version":"4.1.0"},"reference-count":99,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2002,7,1]],"date-time":"2002-07-01T00:00:00Z","timestamp":1025481600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,1,11]],"date-time":"2023-01-11T00:00:00Z","timestamp":1673395200000},"content-version":"vor","delay-in-days":7499,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["li.uscap.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Laboratory Investigation"],"published-print":{"date-parts":[[2002,7]]},"DOI":"10.1097\/01.lab.0000021175.50201.46","type":"journal-article","created":{"date-parts":[[2013,9,4]],"date-time":"2013-09-04T18:38:24Z","timestamp":1378319904000},"page":"815-824","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":37,"title":["Long-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: A Molecular and Biochemical Review"],"prefix":"10.1016","volume":"82","author":[{"given":"Dinesh","family":"Rakheja","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly B","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1097\/01.LAB.0000021175.50201.46_bib1","first-page":"730","article-title":"Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"121","author":"Amirkhan","year":"1997","journal-title":"Arch Pathol Lab Med"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib2","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/S0146-0005(98)80045-1","article-title":"Acute fatty liver of pregnancy","volume":"22","author":"Bacq","year":"1998","journal-title":"Semin Perinatol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib3","doi-asserted-by":"crossref","first-page":"5786","DOI":"10.1021\/bi9829027","article-title":"Biochemical characterization and crystal structure determination of human heart short chain L-3-hydroxyacyl-CoA dehydrogenase provide insights into catalytic mechanism","volume":"38","author":"Barycki","year":"1999","journal-title":"Biochemistry"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/10408360091174169","article-title":"Inborn errors of mitochondrial fatty acid oxidation","volume":"37","author":"Bennett","year":"2000","journal-title":"Crit Rev Clin Lab Sci"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib5","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1203\/00006450-199601000-00031","article-title":"Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation","volume":"39","author":"Bennett","year":"1996","journal-title":"Pediatr Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib6","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/BF01958956","article-title":"Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency","volume":"151","author":"Bertini","year":"1992","journal-title":"Eur J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib7","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1172\/JCI117894","article-title":"Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency","volume":"95","author":"Brackett","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib8","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/0006-291X(92)90501-B","article-title":"Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria","volume":"183","author":"Carpenter","year":"1992","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib9","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1007\/s004310050063","article-title":"Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Possible diagnostic pitfalls","volume":"159","author":"Das","year":"2000","journal-title":"Eur J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib10","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1515\/JPM.2000.063","article-title":"The pathogenesis of pre-eclampsia: New aspects","volume":"28","author":"Dietl","year":"2000","journal-title":"J Perinat Med"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib11","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/S0022-3476(05)80039-3","article-title":"Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency","volume":"118","author":"Dionisi-Vici","year":"1991","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib12","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/S0022-3476(96)70206-8","article-title":"Hypoparathyroidism in mitochondrial trifunctional protein deficiency","volume":"129","author":"Dionisi-Vici","year":"1996","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib13","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1007\/BF01963564","article-title":"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","volume":"150","author":"Duran","year":"1991","journal-title":"Eur J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib14","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1055\/s-2000-9424","article-title":"Hyperemesis gravidarum: A current review","volume":"17","author":"Eliakim","year":"2000","journal-title":"Am J Perinatol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib15","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/j.1651-2227.1999.tb01159.x","article-title":"The future of newborn screening belongs to obstetricians","volume":"88","author":"Evans","year":"1999","journal-title":"Acta Paediatr Suppl"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib16","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1023\/A:1005437616934","article-title":"Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD): A case report and survey","volume":"22","author":"Gillingham","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib17","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0301-2115(00)00427-9","article-title":"Lipid-mediated endothelial dysfunction: A common factor to preeclampsia and chronic vascular disease","volume":"92","author":"Gratacos","year":"2000","journal-title":"Eur J Obstet Gynecol Reprod Biol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib18","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1023\/A:1005502626406","article-title":"Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"22","author":"Harding","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib19","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1007\/BF00711779","article-title":"Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"18","author":"Hagenfeldt","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib20","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/1520-7560(200005\/06)16:3<202::AID-DMRR116>3.0.CO;2-#","article-title":"Lipid metabolism in the fetus and the newborn","volume":"16","author":"Herrera","year":"2000","journal-title":"Diabetes Metab Res Rev"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib21","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/S0022-3476(95)70122-2","article-title":"Heterozygosity for long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and deterioration in liver function in a newborn infant infected with human immunodeficiency virus","volume":"127","author":"Hicks","year":"1995","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib22","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJM199906033402204","article-title":"A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women","volume":"340","author":"Ibdah","year":"1999","journal-title":"N Engl J Med"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib23","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1172\/JCI2091","article-title":"Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation","volume":"102","author":"Ibdah","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib24","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1067\/mpd.2001.111503","article-title":"Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations","volume":"138","author":"Ibdah","year":"2001","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib25","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1172\/JCI118863","volume":"98","author":"IJlst","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib26","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/BF00711778","article-title":"Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: High frequency of the G1528C mutation with no apparent correlation with the clinical phenotype","volume":"18","author":"IJlst","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib27","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/0005-2760(94)90064-7","article-title":"Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein","volume":"1215","author":"IJlst","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib28","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1203\/00006450-200001000-00010","article-title":"Hepatic carnitine palmitoyl transferase I deficiency presenting as maternal illness in pregnancy","volume":"47","author":"Innes","year":"2000","journal-title":"Pediatr Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib29","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/1097-0223(200007)20:7<593::AID-PD876>3.0.CO;2-O","article-title":"A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency","volume":"20","author":"Ioulianos","year":"2000","journal-title":"Prenat Diagn"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib30","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1203\/00006450-199609000-00005","article-title":"Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: Molecular characterization of a novel maternal mutant allele","volume":"40","author":"Isaacs","year":"1996","journal-title":"Pediatr Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib31","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1053\/beog.2000.0102","article-title":"What invasive procedure to use in early pregnancy","volume":"14","author":"Jauniaux","year":"2000","journal-title":"Baillieres Best Pract Res Clin Obstet Gynaecol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib32","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/S0146-0005(99)80006-8","article-title":"First trimester prenatal diagnosis: Chorionic villus sampling","volume":"23","author":"Jenkins","year":"1999","journal-title":"Semin Perinatol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib33","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1093\/clinchem\/46.2.149","article-title":"Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation","volume":"46","author":"Jones","year":"2000","journal-title":"Clin Chem"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib34","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1006\/bbrc.1994.1302","article-title":"Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein","volume":"199","author":"Kamijo","year":"1994","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib35","doi-asserted-by":"crossref","first-page":"26452","DOI":"10.1016\/S0021-9258(19)74336-1","article-title":"Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid beta-oxidation multienzyme complex: Structural and functional relationships to other mitochondrial and peroxisomal beta-oxidation enzymes","volume":"268","author":"Kamijo","year":"1993","journal-title":"J Biol Chem"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S1388-1981(00)00044-5","article-title":"Fatty acid import into mitochondria","volume":"1486","author":"Kerner","year":"2000","journal-title":"Biochim Biophys Acta"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib37","first-page":"H75","article-title":"Inhibition of sarcolemmal Na+-K+-ATPase by palmitoyl carnitine: Potentiation by propranolol","volume":"248","author":"Kramer","year":"1985","journal-title":"Am J Physiol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib38","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1016\/S0002-9394(14)71141-9","article-title":"Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency","volume":"123","author":"Lawlor","year":"1997","journal-title":"Am J Ophthalmol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib39","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/S0021-9258(17)36067-2","article-title":"Potentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles","volume":"261","author":"Mak","year":"1986","journal-title":"J Biol Chem"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib40","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/BF01799273","article-title":"Lethal dilated cardiomyopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"19","author":"Martins","year":"1996","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib41","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1067\/mpd.2001.111814","article-title":"Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency","volume":"138","author":"Matern","year":"2001","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib42","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1006\/mgme.2000.3135","article-title":"Placental floor infarct complicating the pregnancy of a fetus with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"72","author":"Matern","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib43","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0143-4004(97)80059-8","article-title":"Decrease in cytochrome c oxidase activity detected cytochemically in the placental trophoblast of patients with pre-eclampsia","volume":"18","author":"Matsubara","year":"1997","journal-title":"Placenta"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib44","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1432-1033.1997.00001.x","article-title":"The mitochondrial carnitine palmitoyl transferase system: From concept to molecular analysis","volume":"244","author":"McGarry","year":"1997","journal-title":"Eur J Biochem"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib45","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1212\/WNL.49.3.833","article-title":"Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence","volume":"49","author":"Miyajima","year":"1997","journal-title":"Neurology"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib46","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/(SICI)1097-0223(199602)16:2<117::AID-PD820>3.0.CO;2-Z","article-title":"Prenatal diagnosis of mitochondrial fatty acid oxidation defects","volume":"16","author":"Nada","year":"1996","journal-title":"Prenat Diagn"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib47","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1023\/A:1005676600975","article-title":"The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency","volume":"23","author":"Nelson","year":"2000","journal-title":"Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib48","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/hmg\/6.8.1215","article-title":"Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency","volume":"6","author":"Orii","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib49","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1023\/A:1006874503379","article-title":"Differential regulation in the heart of mitochondrial carnitine palmitoyltransferase-I muscle and liver isoforms","volume":"180","author":"Park","year":"1998","journal-title":"Mol Cell Biochem"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib50","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/pd.1970130616","article-title":"First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk","volume":"13","author":"Perez-Cerda","year":"1993","journal-title":"Prenat Diagn"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib51","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/S0146-0005(99)80005-6","article-title":"First trimester prenatal diagnosis: Fetal cells in the maternal circulation","volume":"23","author":"Pertl","year":"1999","journal-title":"Semin Perinatol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib52","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1007\/BF00710058","article-title":"Disorders of mitochondrial long-chain fatty acid oxidation","volume":"18","author":"Pollitt","year":"1995","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib53","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/0887-8994(96)00021-5","article-title":"The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"14","author":"Pons","year":"1996","journal-title":"Pediatr Neurol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib54","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1042\/bj2690409","volume":"269","author":"Prip-Buus","year":"1990","journal-title":"Biochem J"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib55","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1007\/BF01799932","article-title":"Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"14","author":"Przyrembel","year":"1991","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib56","doi-asserted-by":"crossref","unstructured":"Rakheja D, Bennett MJ, Foster BM, Domiati-Saad R, and Rogers BB (In press, 2002). Evidence for fatty acid oxidation in human placenta, and the relationship of fatty acid oxidation enzyme activities with gestational age. Placenta.","DOI":"10.1053\/plac.2002.0808"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib57","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1515\/JPM.2000.033","article-title":"HELLP syndrome","volume":"28","author":"Rath","year":"2000","journal-title":"J Perinat Med"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib58","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/BF01799642","article-title":"Fatal outcome in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"15","author":"Ribes","year":"1992","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib59","first-page":"468","article-title":"Lipids, lipoproteins, and apolipoproteins","author":"Rifai","year":"2001","journal-title":"Tietz fundamentals of clinical chemistry"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib60","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0140-6736(00)03577-7","article-title":"Pathogenesis and genetics of pre-eclampsia","volume":"357","author":"Roberts","year":"2001","journal-title":"Lancet"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib61","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1016\/S0140-6736(99)80002-6","article-title":"Is oxidative stress the link in the two-stage model of pre-eclampsia","volume":"354","author":"Roberts","year":"1999","journal-title":"Lancet"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib62","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1203\/00006450-199012000-00023","article-title":"Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood","volume":"28","author":"Rocchiccioli","year":"1990","journal-title":"Pediatr Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib63","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1006\/mgme.1999.2911","article-title":"Recent developments in the investigation of inherited metabolic disorders using cultured human cells","volume":"68","author":"Roe","year":"1999","journal-title":"Mol Genet Metab"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib64","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/0014-5793(82)81329-X","article-title":"Regulation of hepatic carnitine palmitoyl transferase activity during the fetal-neonatal transition","volume":"150","author":"Saggerson","year":"1982","journal-title":"FEBS Lett"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib65","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/0065-2571(92)90023-S","article-title":"Regulation of mitochondrial carnitine palmitoyl transferases from liver and extrahepatic tissues","volume":"32","author":"Saggerson","year":"1992","journal-title":"Adv Enzyme Regul"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib66","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1023\/A:1005556207210","article-title":"Recognition and management of fatty acid oxidation defects: A series of 107 patients","volume":"22","author":"Saudubray","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib67","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ana.410400409","article-title":"Trifunctional enzyme deficiency: Adult presentation of a usually fatal beta-oxidation defect","volume":"40","author":"Schaefer","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib68","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/0016-5085(91)90228-D","article-title":"Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring","volume":"100","author":"Schoeman","year":"1991","journal-title":"Gastroenterology"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib69","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1136\/bjo.81.4.291","article-title":"Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency","volume":"81","author":"Schrijver-Wieling","year":"1997","journal-title":"Br J Ophthalmol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib70","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1093\/molehr\/6.12.1165","article-title":"Preimplantation genetic diagnosis for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency","volume":"6","author":"Sermon","year":"2000","journal-title":"Mol Hum Reprod"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib71","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/BF01954492","article-title":"Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder","volume":"153","author":"Sewell","year":"1994","journal-title":"Eur J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib72","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/0002-9378(89)90392-X","article-title":"Ultrastructural aspects of preeclampsia. I. Placental bed and uterine boundary vessels","volume":"161","author":"Shanklin","year":"1989","journal-title":"Am J Obstet Gynecol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib73","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/0002-9378(90)91102-I","article-title":"Ultrastructural aspects of preeclampsia. II. Mitochondrial changes","volume":"163","author":"Shanklin","year":"1990","journal-title":"Am J Obstet Gynecol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib74","first-page":"55","article-title":"Fatty acid oxidation (FAO) in normal human placenta: Developmental expression and activity of enzymes of mitochondria beta oxidation (Abstract)","volume":"49","author":"Shekhawat","year":"2001","journal-title":"Pediatr Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib75","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1023\/A:1005694712583","article-title":"Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders","volume":"23","author":"Shen","year":"2000","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib76","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1073\/pnas.92.3.841","article-title":"The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy","volume":"92","author":"Sims","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib77","first-page":"9","article-title":"Effect of fatty acids and their derivatives on mitochondrial structures","volume":"4","author":"Singh","year":"1989","journal-title":"J Exp Pathol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib78","first-page":"339","article-title":"Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency","volume":"19","author":"Treem","year":"1994","journal-title":"Hepatology"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib79","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/S0002-9378(98)70446-6","article-title":"Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency","volume":"178","author":"Tyni","year":"1998","journal-title":"Am J Obstet Gynecol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib80","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1080\/02713689808951227","article-title":"Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation","volume":"17","author":"Tyni","year":"1998","journal-title":"Curr Eye Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib81","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1016\/S0161-6420(98)95019-9","article-title":"Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: A new type of hereditary metabolic chorioretinopathy","volume":"105","author":"Tyni","year":"1998","journal-title":"Ophthalmology"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib82","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0960-8966(96)00352-5","article-title":"Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation","volume":"6","author":"Tyni","year":"1996","journal-title":"Neuromuscul Disord"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib83","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/S0022-3476(97)70312-3","article-title":"Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: Clinical presentation of thirteen patients","volume":"130","author":"Tyni","year":"1997","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib84","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1111\/j.1651-2227.1999.tb01089.x","article-title":"Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency","volume":"88","author":"Tyni","year":"1999","journal-title":"Acta Paediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib85","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1080\/15513819709168585","article-title":"Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation","volume":"17","author":"Tyni","year":"1997","journal-title":"Pediatr Pathol Lab Med"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib86","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/S0022-3476(97)70111-2","article-title":"Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation","volume":"131","author":"Tyni","year":"1997","journal-title":"J Pediatr"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib87","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/S0021-9258(18)48391-3","article-title":"Novel fatty acid beta-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase\/3-hydroxyacyl-CoA dehydrogenase\/3-ketoacyl-CoA thiolase trifunctional protein","volume":"267","author":"Uchida","year":"1992","journal-title":"J Biol Chem"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib88","first-page":"979","article-title":"Molecular characterization of mitochondrial trifunctional protein deficiency: Formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits","volume":"58","author":"Ushikubo","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib89","first-page":"941","article-title":"Nutritional assessment, therapy, and monitoring","author":"Veldee","year":"2001","journal-title":"Tietz fundamentals of clinical chemistry"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib90","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1203\/00006450-199407001-00020","article-title":"Beta-oxidation enzymes in fibroblasts from patients with 3-hydroxydicarboxylic aciduria","volume":"36","author":"Venizelos","year":"1994","journal-title":"Pediatr Res"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib91","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1016\/S0002-9378(11)91716-5","article-title":"Maternal floor infarction: Relationship to X cells, major basic protein, and adverse perinatal outcome","volume":"167","author":"Vernof","year":"1992","journal-title":"Am J Obstet Gynecol"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib92","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/S0140-6736(89)90300-0","article-title":"Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase","volume":"2","author":"Wanders","year":"1989","journal-title":"Lancet"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib93","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/BF01799383","article-title":"Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid beta-oxidation","volume":"13","author":"Wanders","year":"1990","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib94","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1023\/A:1005504223140","article-title":"Disorders of mitochondrial fatty acyl-CoA beta-oxidation","volume":"22","author":"Wanders","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib95","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/S0143-4004(98)90018-2","article-title":"Placental mitochondria as a source of oxidative stress in pre-eclampsia","volume":"19","author":"Wang","year":"1998","journal-title":"Placenta"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib96","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1002\/(SICI)1097-0223(199812)18:13<1389::AID-PD498>3.0.CO;2-6","article-title":"Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification","volume":"18","author":"Wells","year":"1998","journal-title":"Prenat Diagn"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib97","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/0140-6736(93)92993-4","article-title":"Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency","volume":"341","author":"Wilcken","year":"1993","journal-title":"Lancet"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib98","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/0005-2728(93)90004-Y","article-title":"Effect of fatty acids on energy coupling processes in mitochondria","volume":"1183","author":"Wojtczak","year":"1993","journal-title":"Biochim Biophys Acta"},{"key":"10.1097\/01.LAB.0000021175.50201.46_bib99","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1006\/geno.1996.0533","article-title":"The genes for the \u03b1 and \u03b2 subunits of the mitochondrial trifunctional protein are both located in the same region of the human chromosome 2p23","volume":"37","author":"Yang","year":"1996","journal-title":"Genomics"}],"container-title":["Laboratory Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0023683722030331?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0023683722030331?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T13:06:09Z","timestamp":1675947969000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0023683722030331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7]]},"references-count":99,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2002,7]]}},"alternative-id":["S0023683722030331"],"URL":"https:\/\/doi.org\/10.1097\/01.lab.0000021175.50201.46","relation":{},"ISSN":["0023-6837"],"issn-type":[{"value":"0023-6837","type":"print"}],"subject":[],"published":{"date-parts":[[2002,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Long-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: A Molecular and Biochemical Review","name":"articletitle","label":"Article Title"},{"value":"Laboratory Investigation","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1097\/01.LAB.0000021175.50201.46","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2002 United States & Canadian Academy of Pathology.","name":"copyright","label":"Copyright"}]}}