{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T09:02:43Z","timestamp":1694768563725},"reference-count":28,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2010,1]]},"DOI":"10.1016\/j.jpeds.2009.07.008","type":"journal-article","created":{"date-parts":[[2009,10,2]],"date-time":"2009-10-02T08:30:51Z","timestamp":1254472251000},"page":"121-127","source":"Crossref","is-referenced-by-count":6,"title":["Fasting and Fat-Loading Tests Provide Pathophysiological Insight into Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency"],"prefix":"10.1016","volume":"156","author":[{"given":"Bianca T.","family":"van Maldegem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marinus","family":"Duran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald J.A.","family":"Wanders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom J.","family":"de Koning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estela","family":"Rubio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frits A.","family":"Wijburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2009.07.008_bib1","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.ymgme.2008.06.002","article-title":"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms","volume":"95","author":"Waisbren","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jpeds.2009.07.008_bib2","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1001\/jama.296.8.943","article-title":"Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency","volume":"296","author":"van Maldegem","year":"2006","journal-title":"JAMA"},{"key":"10.1016\/j.jpeds.2009.07.008_bib3","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s00439-008-0521-9","article-title":"The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level","volume":"124","author":"Pedersen","year":"2008","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2009.07.008_bib4","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ymgme.2007.09.021","article-title":"Short-chain acyl-CoA dehydrogenase gene mutation (c.319C > T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin","volume":"93","author":"Tein","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jpeds.2009.07.008_bib5","doi-asserted-by":"crossref","first-page":"2304","DOI":"10.1056\/NEJMoa025225","article-title":"Screening newborns for inborn errors of metabolism by tandem mass spectrometry","volume":"348","author":"Wilcken","year":"2003","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2009.07.008_bib6","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1007\/s10545-005-0557-0","article-title":"The 625G > A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots","volume":"28","author":"Maldegem","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpeds.2009.07.008_bib7","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1016\/S1096-7192(03)00034-9","article-title":"The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots","volume":"78","author":"Nagan","year":"2003","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jpeds.2009.07.008_bib8","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1203\/00006450-200101000-00008","article-title":"Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency","volume":"49","author":"Corydon","year":"2001","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jpeds.2009.07.008_bib9","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1093\/hmg\/7.4.619","volume":"7","author":"Gregersen","year":"1998","journal-title":"Hum Mol Genet"},{"issue":"Suppl 3","key":"10.1016\/j.jpeds.2009.07.008_bib10","doi-asserted-by":"crossref","first-page":"S213","DOI":"10.1007\/PL00014406","article-title":"Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations","volume":"159","author":"Gregersen","year":"2000","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2009.07.008_bib11","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.plefa.2003.06.003","article-title":"Implications of impaired ketogenesis in fatty acid oxidation disorders","volume":"70","author":"Olpin","year":"2004","journal-title":"Prostaglandins Leukot Essent Fatty Acids"},{"key":"10.1016\/j.jpeds.2009.07.008_bib12","series-title":"The metabolic and molecular bases of inherited disease","article-title":"Mitochondrial fatty acid oxidation disorders","author":"Roe","year":"2001"},{"key":"10.1016\/j.jpeds.2009.07.008_bib13","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1023\/A:1005587617745","article-title":"Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects","volume":"22","author":"Vreken","year":"1999","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.jpeds.2009.07.008_bib14","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1002\/humu.20373","article-title":"A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria","volume":"27","author":"Bikker","year":"2006","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2009.07.008_bib15","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1007\/BF02072043","article-title":"The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states","volume":"150","author":"Bonnefont","year":"1990","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2009.07.008_bib16","series-title":"Physician's guide to the laboratory diagnosis of metabolic diseases","author":"Blau","year":"2005"},{"key":"10.1016\/j.jpeds.2009.07.008_bib17","doi-asserted-by":"crossref","unstructured":"Costa CC, de A, I, Jakobs C, Poll-The BT, Duran M. Dynamic changes of plasma acylcarnitine levels induced by fasting and sunflower oil challenge test in children. Pediatr Res 1999;46:440\u20134.","DOI":"10.1203\/00006450-199910000-00013"},{"key":"10.1016\/j.jpeds.2009.07.008_bib18","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1111\/j.1651-2227.2002.tb01674.x","article-title":"Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation","volume":"91","author":"Birkebaek","year":"2002","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.jpeds.2009.07.008_bib19","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1007\/BF01957531","article-title":"A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria","volume":"152","author":"Sewell","year":"1993","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2009.07.008_bib20","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1172\/JCI200111294","article-title":"Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion","volume":"108","author":"Clayton","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jpeds.2009.07.008_bib21","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1136\/adc.2005.089425","article-title":"Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia","volume":"91","author":"Bodamer","year":"2006","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jpeds.2009.07.008_bib22","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1007\/s00431-007-0598-5","article-title":"Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand","volume":"167","author":"Huidekoper","year":"2008","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpeds.2009.07.008_bib23","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/S0950-351X(05)80212-5","article-title":"Methods for the investigation of hypoglycaemia with particular reference to inherited disorders of mitochondrial beta-oxidation","volume":"7","author":"Bartlett","year":"1993","journal-title":"Baillieres Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2009.07.008_bib24","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/0026-0495(78)90022-7","article-title":"Effect of fasting on free and esterified carnitine levels in human serum and urine: correlation with serum levels of free fatty acids and beta-hydroxybutyrate","volume":"27","author":"Frohlich","year":"1978","journal-title":"Metabolism"},{"key":"10.1016\/j.jpeds.2009.07.008_bib25","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1023\/A:1022874103630","article-title":"Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro","volume":"28","author":"Leipnitz","year":"2003","journal-title":"Neurochem Res"},{"key":"10.1016\/j.jpeds.2009.07.008_bib26","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.ymgme.2008.09.007","article-title":"Short-chain acyl-coenzyme A dehydrogenase deficiency","volume":"95","author":"Jethva","year":"2008","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jpeds.2009.07.008_bib27","unstructured":"National Newborn Screening Status Report. National Newborn Screening and Genetics Resource Center (NNSGRC) Austin, Texas USA. http:\/\/genes-r-us.uthscsa.edu\/nbsdisorders.pdf. Accessed Aug 5, 2009."},{"key":"10.1016\/j.jpeds.2009.07.008_bib28","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1080\/00313020701813743","article-title":"Newborn screening","volume":"40","author":"Wilcken","year":"2008","journal-title":"Pathology"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347609006416?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347609006416?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T00:19:23Z","timestamp":1558570763000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347609006416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,1]]}},"alternative-id":["S0022347609006416"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2009.07.008","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}