{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T15:06:31Z","timestamp":1791644791270,"version":"4.3.4"},"reference-count":91,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Aspects of Medicine"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1016\/j.mam.2017.03.003","type":"journal-article","created":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T16:23:07Z","timestamp":1490199787000},"page":"10-24","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":138,"special_numbering":"C","title":["Bile acid analysis in human disorders of bile acid biosynthesis"],"prefix":"10.1016","volume":"56","author":[{"given":"Fr\u00e9d\u00e9ric. M.","family":"Vaz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Ferdinandusse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mam.2017.03.003_bib1","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1136\/adc.80.5.463","article-title":"An inborn error of bile acid synthesis (3beta-hydroxy-delta5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets","volume":"80","author":"Akobeng","year":"1999","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.mam.2017.03.003_bib2","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.cca.2016.11.014","article-title":"Bile acid preparation and comprehensive analysis by high performance liquid chromatography \u2013 high-resolution mass spectrometry","volume":"464","author":"Amplatz","year":"2016","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.mam.2017.03.003_bib3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1111\/j.1399-0004.2011.01624.x","article-title":"Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations","volume":"81","author":"Arnoldi","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.mam.2017.03.003_bib4","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1042\/BJ20130915","article-title":"Role of AMACR (alpha-methylacyl-CoA racemase) and MFE-1 (peroxisomal multifunctional enzyme-1) in bile acid synthesis in mice","volume":"461","author":"Autio","year":"2014","journal-title":"Biochem. J."},{"key":"10.1016\/j.mam.2017.03.003_bib5","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1016\/S0022-2275(20)38632-6","article-title":"Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid","volume":"28","author":"Batta","year":"1987","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib6","series-title":"Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases","author":"Baumgartner","year":"2014"},{"key":"10.1016\/j.mam.2017.03.003_bib7","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/s10545-015-9880-2","article-title":"Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood","volume":"39","author":"Berendse","year":"2016","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib8","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.nmd.2008.10.009","article-title":"White matter lesions in spastic paraplegia with mutations in SPG5\/CYP7B1","volume":"19","author":"Biancheri","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.mam.2017.03.003_bib9","doi-asserted-by":"crossref","first-page":"2034","DOI":"10.1172\/JCI114939","article-title":"Lack of 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase\/isomerase in fibroblasts from a child with urinary excretion of 3 beta-hydroxy-delta 5-bile acids. A new inborn error of metabolism","volume":"86","author":"Buchmann","year":"1990","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib10","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/ng1147","article-title":"Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT","volume":"34","author":"Carlton","year":"2003","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mam.2017.03.003_bib11","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.1210\/jc.2002-021580","article-title":"Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease","volume":"88","author":"Cheng","year":"2003","journal-title":"J.\u00a0Clin. Endocrinol. Metab."},{"key":"10.1016\/j.mam.2017.03.003_bib12","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s10545-011-9416-3","article-title":"Bile acid-CoA ligase deficiency\u2013a new inborn error of bile acid metabolism","volume":"35","author":"Chong","year":"2012","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib13","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1212\/01.WNL.0000132841.81250.B7","article-title":"Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency","volume":"63","author":"Clarke","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.mam.2017.03.003_bib14","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1007\/s10545-010-9259-3","article-title":"Disorders of bile acid synthesis","volume":"34","author":"Clayton","year":"2011","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib15","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1007\/BF02343226","article-title":"Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography-mass spectrometry","volume":"146","author":"Clayton","year":"1987","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.mam.2017.03.003_bib16","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1172\/JCI112915","article-title":"Familial giant cell hepatitis associated with synthesis of 3 beta, 7 alpha-dihydroxy-and 3 beta,7 alpha, 12 alpha-trihydroxy-5-cholenoic acids","volume":"79","author":"Clayton","year":"1987","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib17","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1136\/gut.38.4.623","article-title":"Delta 4-3-oxosteroid 5 beta-reductase deficiency: failure of ursodeoxycholic acid treatment and response to chenodeoxycholic acid plus cholic acid","volume":"38","author":"Clayton","year":"1996","journal-title":"Gut"},{"key":"10.1016\/j.mam.2017.03.003_bib18","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1023\/A:1021211520034","article-title":"Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis","volume":"25","author":"Clayton","year":"2002","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib19","doi-asserted-by":"crossref","first-page":"8761","DOI":"10.1016\/S0021-9258(18)34194-2","article-title":"The effect of bile acid structure on the activity of bile acid-CoA:glycine\/taurine-N-acetyltransferase","volume":"257","author":"Czuba","year":"1982","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mam.2017.03.003_bib20","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1007\/s10545-014-9695-6","article-title":"Liver disease in infancy caused by oxysterol 7 \u03b1-hydroxylase deficiency: successful treatment with chenodeoxycholic acid","volume":"37","author":"Dai","year":"2014","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib21","doi-asserted-by":"crossref","first-page":"2340","DOI":"10.1194\/jlr.R900012-JLR200","article-title":"Bile acid transporters","volume":"50","author":"Dawson","year":"2009","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib22","doi-asserted-by":"crossref","first-page":"1768","DOI":"10.1212\/WNL.0b013e31821a4484","article-title":"AMACR mutations cause late-onset autosomal recessive cerebellar ataxia","volume":"76","author":"Dick","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.mam.2017.03.003_bib23","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.steroids.2012.02.006","article-title":"27-Hydroxycholesterol, does it exist? On the nomenclature and stereochemistry of 26-hydroxylated sterols","volume":"77","author":"Fakheri","year":"2012","journal-title":"Steroids"},{"key":"10.1016\/j.mam.2017.03.003_bib24","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/72861","article-title":"Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy","volume":"24","author":"Ferdinandusse","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mam.2017.03.003_bib25","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1194\/jlr.R900009-JLR200","article-title":"Bile acids: the role of peroxisomes","volume":"50","author":"Ferdinandusse","year":"2009","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib26","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/S0022-2275(20)31983-0","article-title":"Subcellular localization and physiological role of \u03b1-methylacyl-CoA racemase","volume":"41","author":"Ferdinandusse","year":"2000","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib27","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/ana.20702","article-title":"Clinical and biochemical spectrum of D-bifunctional protein deficiency","volume":"59","author":"Ferdinandusse","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mam.2017.03.003_bib28","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/j.bbamcr.2006.09.001","article-title":"Peroxisomes and bile acid biosynthesis","volume":"1763","author":"Ferdinandusse","year":"2006","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mam.2017.03.003_bib29","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1093\/hmg\/ddu448","article-title":"A\u00a0novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3","volume":"24","author":"Ferdinandusse","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mam.2017.03.003_bib30","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1086\/503921","article-title":"Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy","volume":"78","author":"Ferdinandusse","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mam.2017.03.003_bib31","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0022-2275(20)32345-2","article-title":"Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency","volume":"42","author":"Ferdinandusse","year":"2001","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib32","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.jhep.2003.12.024","article-title":"SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect","volume":"40","author":"Gonzales","year":"2004","journal-title":"J.\u00a0Hepatol."},{"key":"10.1016\/j.mam.2017.03.003_bib33","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1194\/jlr.R001941","article-title":"Bile acids: analysis in biological fluids and tissues","volume":"51","author":"Griffiths","year":"2010","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib34","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.bbrc.2010.02.149","article-title":"Analytical strategies for characterization of bile acid and oxysterol metabolomes","volume":"396","author":"Griffiths","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mam.2017.03.003_bib35","first-page":"3322","article-title":"Diagnosis in bile acid-CoA: amino acid N-acyltransferase deficiency","volume":"18","author":"Had\u017ei\u0107","year":"2012","journal-title":"World J. Gastroenterol."},{"key":"10.1016\/j.mam.2017.03.003_bib36","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.jhep.2012.08.002","article-title":"Bile acid transporters and regulatory nuclear receptors in the liver and beyond","volume":"58","author":"Halilbasic","year":"2013","journal-title":"J.\u00a0Hepatol."},{"key":"10.1016\/j.mam.2017.03.003_bib37","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-8-1","article-title":"MRI characterisation of adult onset\u00a0alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing","volume":"8","author":"Haugarvoll","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib38","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1055\/s-2007-985073","article-title":"Inborn errors of bile acid metabolism","volume":"27","author":"Heubi","year":"2007","journal-title":"Semin. Liver Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib39","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1212\/WNL.0000000000002157","article-title":"SCP2 mutations and neurodegeneration with brain iron accumulation","volume":"85","author":"Horvath","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.mam.2017.03.003_bib40","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1053\/j.gastro.2006.02.012","article-title":"Mice deleted for fatty acid transport protein 5 have defective bile acid conjugation and are protected from obesity","volume":"130","author":"Hubbard","year":"2006","journal-title":"Gastroenterology"},{"key":"10.1016\/j.mam.2017.03.003_bib41","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0022-2275(20)42035-8","article-title":"Bile acids and bile alcohols in a child with hepatic 3 beta-hydroxy-delta 5-C27-steroid dehydrogenase deficiency: effects of chenodeoxycholic acid treatment","volume":"32","author":"Ichimiya","year":"1991","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib42","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1006\/bbrc.1998.9497","article-title":"Cholestanol induces apoptosis of cerebellar neuronal cells","volume":"256","author":"Inoue","year":"1999","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mam.2017.03.003_bib43","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/S0022-3476(05)83280-9","article-title":"A\u00a0new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase\/isomerase deficiency","volume":"125","author":"Jacquemin","year":"1994","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.mam.2017.03.003_bib44","doi-asserted-by":"crossref","first-page":"12486","DOI":"10.1016\/S0021-9258(18)67113-3","article-title":"Bile acid synthesis. Metabolism of 3 beta-hydroxy-5-cholenoic acid to chenodeoxycholic acid","volume":"261","author":"Javitt","year":"1986","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mam.2017.03.003_bib45","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1212\/WNL.0b013e3181f612a5","article-title":"Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency","volume":"75","author":"Kapina","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.mam.2017.03.003_bib46","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1016\/j.cca.2012.05.016","article-title":"Neonatal cholestasis with increased 3\u03b2-monohydroxy-\u03945 bile acids in serum and urine: not necessarily primary oxysterol 7\u03b1 hydroxylase deficiency","volume":"413","author":"Kimura","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.mam.2017.03.003_bib47","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1186\/s13023-015-0368-9","article-title":"Zellweger spectrum disorders: clinical overview and management approach","volume":"10","author":"Klouwer","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib48","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/0009-8981(86)90215-9","article-title":"Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment-mass spectrometry of urine bile salts","volume":"161","author":"Lawson","year":"1986","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.mam.2017.03.003_bib49","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1136\/gut.52.10.1494","article-title":"Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy","volume":"52","author":"Lemonde","year":"2003","journal-title":"Gut"},{"key":"10.1016\/j.mam.2017.03.003_bib50","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/0016-5085(83)90025-2","article-title":"Monohydroxy bile salt sulfates: tauro-3 beta-hydroxy-5-cholenoate-3-sulfate induces intrahepatic cholestasis in rats","volume":"85","author":"Mathis","year":"1983","journal-title":"Gastroenterology"},{"key":"10.1016\/j.mam.2017.03.003_bib51","doi-asserted-by":"crossref","first-page":"24771","DOI":"10.1074\/jbc.M203295200","article-title":"Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling","volume":"277","author":"Mihalik","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mam.2017.03.003_bib52","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1002\/lt.22331","article-title":"Successful heterozygous living donor liver transplantation for an oxysterol 7\u03b1-hydroxylase deficiency in a Japanese patient","volume":"17","author":"Mizuochi","year":"2011","journal-title":"Liver Transpl."},{"key":"10.1016\/j.mam.2017.03.003_bib53","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.jhep.2016.11.005","article-title":"ACOX2 deficiency: an inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia","volume":"66","author":"Monte","year":"2017","journal-title":"J.\u00a0Hepatol."},{"key":"10.1016\/j.mam.2017.03.003_bib54","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/S0022-2275(20)42749-X","article-title":"Bile acid metabolism in early life: studies of amniotic fluid","volume":"31","author":"Nakagawa","year":"1990","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib55","doi-asserted-by":"crossref","first-page":"34237","DOI":"10.1074\/jbc.M300987200","article-title":"The human bile acid-CoA: amino acid N-Acyltransferase functions in the conjugation of fatty acids to Glycine","volume":"278","author":"O'Byrne","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mam.2017.03.003_bib56","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/0039-128X(93)90037-N","article-title":"Synthesis and 29-14C-labeling of 3\u03b1,7\u03b1,12\u03b1-trihydroxy-27-carboxymethyl-5\u03b2-cholestan-26-oic acid. A bile acid occurring in peroxisomal diseases","volume":"58","author":"Parmentier","year":"1993","journal-title":"Steroids"},{"key":"10.1016\/j.mam.2017.03.003_bib57","doi-asserted-by":"crossref","DOI":"10.1007\/s10545-008-0815-z","article-title":"Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy","volume":"31","author":"Pierre","year":"2008","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib58","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1172\/JCI0215387","article-title":"Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype","volume":"110","author":"Pullinger","year":"2002","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib59","doi-asserted-by":"crossref","first-page":"4925","DOI":"10.1073\/pnas.94.10.4925","article-title":"Cyp7b, a novel brain cytochrome P450, catalyzes the synthesis of neurosteroids 7alpha-hydroxy dehydroepiandrosterone and 7alpha-hydroxy pregnenolone","volume":"94","author":"Rose","year":"1997","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"Suppl.\u00a0l","key":"10.1016\/j.mam.2017.03.003_bib60","doi-asserted-by":"crossref","first-page":"S120","DOI":"10.1194\/jlr.R800026-JLR200","article-title":"Fifty years of advances in bile acid synthesis and metabolism","volume":"50","author":"Russell","year":"2009","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib61","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1146\/annurev.biochem.72.121801.161712","article-title":"The enzymes, regulation, and genetics of bile acid synthesis","volume":"72","author":"Russell","year":"2003","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.mam.2017.03.003_bib62","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1172\/JCI109275","article-title":"Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis","volume":"63","author":"Salen","year":"1979","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib63","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1194\/jlr.M002543","article-title":"Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis","volume":"51","author":"Sch\u00fcle","year":"2010","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib64","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1172\/JCI10902","article-title":"The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis","volume":"106","author":"Schwarz","year":"2000","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib65","doi-asserted-by":"crossref","first-page":"16637","DOI":"10.1016\/S0021-9258(18)37438-6","article-title":"Hepatic bile acid metabolism during early development revealed from the analysis of human fetal gallbladder bile","volume":"263","author":"Setchell","year":"1988","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mam.2017.03.003_bib66","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1172\/JCI2962","article-title":"Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease","volume":"102","author":"Setchell","year":"1998","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib67","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1172\/JCI113837","article-title":"Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis","volume":"82","author":"Setchell","year":"1988","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib68","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1053\/gast.2003.50017","article-title":"Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy","volume":"124","author":"Setchell","year":"2003","journal-title":"Gastroenterology"},{"key":"10.1016\/j.mam.2017.03.003_bib69","doi-asserted-by":"crossref","DOI":"10.1053\/j.gastro.2013.02.004","article-title":"Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency","volume":"144","author":"Setchell","year":"2013","journal-title":"Gastroenterology"},{"key":"10.1016\/j.mam.2017.03.003_bib70","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1089\/10966200360716634","article-title":"Cholestanol metabolism, molecular pathology, and nutritional implications","volume":"6","author":"Seyama","year":"2003","journal-title":"J.\u00a0Med. Food"},{"key":"10.1016\/j.mam.2017.03.003_bib71","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1172\/JCI108366","article-title":"A\u00a025 hydroxylation pathway of cholic acid biosynthesis in man and rat","volume":"57","author":"Shefer","year":"1976","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib72","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S0022-3476(94)70310-8","article-title":"Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis","volume":"124","author":"Shneider","year":"1994","journal-title":"J.\u00a0Pediatr."},{"issue":"Suppl.\u00a03","key":"10.1016\/j.mam.2017.03.003_bib73","doi-asserted-by":"crossref","first-page":"S349","DOI":"10.1007\/s10545-010-9183-6","article-title":"An adult onset case of alpha-methyl-acyl-CoA racemase deficiency","volume":"33","author":"Smith","year":"2010","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.mam.2017.03.003_bib74","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1016\/S0022-2275(20)32022-8","article-title":"Subcellular organization of bile acid amidation in human liver: a key issue in regulating the biosynthesis of bile salts","volume":"41","author":"Solaas","year":"2000","journal-title":"J.\u00a0Lipid Res."},{"key":"10.1016\/j.mam.2017.03.003_bib75","doi-asserted-by":"crossref","first-page":"15605","DOI":"10.1074\/jbc.C000015200","article-title":"The human liver-specific homolog of very long-chain acyl-CoA synthetase is cholate: CoA ligase","volume":"275","author":"Steinberg","year":"2000","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.mam.2017.03.003_bib76","doi-asserted-by":"crossref","first-page":"4829","DOI":"10.1172\/JCI68506","article-title":"Cholestenoic acids regulate motor neuron survival via liver X receptors","volume":"124","author":"Theofilopoulos","year":"2014","journal-title":"J.\u00a0Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib77","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1136\/jnnp.2007.129478","article-title":"Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency","volume":"79","author":"Thompson","year":"2008","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.mam.2017.03.003_bib78","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1016\/j.ajhg.2007.10.001","article-title":"Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration","volume":"82","author":"Tsaousidou","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mam.2017.03.003_bib79","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1097\/MPG.0b013e31815a9911","article-title":"Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7alpha-hydroxylase gene","volume":"46","author":"Ueki","year":"2008","journal-title":"J.\u00a0Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.mam.2017.03.003_bib80","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1093\/oxfordjournals.jbchem.a122200","article-title":"Occurrence of both (25R)- and (25S)-3 alpha,7 alpha,12 alpha-trihydroxy-5 beta-cholestanoic acids in urine from an infant with Zellweger's syndrome","volume":"102","author":"Une","year":"1987","journal-title":"J.\u00a0Biochem."},{"key":"10.1016\/j.mam.2017.03.003_bib81","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1111\/j.1365-2362.1987.tb01131.x","article-title":"Bile acids in peroxisomal disorders","volume":"17","author":"Van Eldere","year":"1987","journal-title":"Eur. J. Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib82","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/0014-5793(96)00508-X","article-title":"Peroxisomal beta-oxidation of 2-methyl-branched acyl-CoA esters: stereospecific recognition of the 2S-methyl compounds by trihydroxycoprostanoyl-CoA oxidase and pristanoyl-CoA oxidase","volume":"388","author":"Van Veldhoven","year":"1996","journal-title":"FEBS Lett."},{"key":"10.1016\/j.mam.2017.03.003_bib83","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1046\/j.1365-2362.2001.00877.x","article-title":"Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency","volume":"31","author":"Van Veldhoven","year":"2001","journal-title":"Eur. J. Clin. Invest"},{"key":"10.1016\/j.mam.2017.03.003_bib84","doi-asserted-by":"crossref","first-page":"2931","DOI":"10.1002\/ajmg.a.35611","article-title":"Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4","volume":"158 A","author":"Verhagen","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"10.1016\/j.mam.2017.03.003_bib85","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1093\/brain\/123.5.908","article-title":"Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis","volume":"123","author":"Verrips","year":"2000","journal-title":"Brain"},{"key":"10.1016\/j.mam.2017.03.003_bib86","doi-asserted-by":"crossref","first-page":"11289","DOI":"10.1073\/pnas.1613228113","article-title":"ACOX2 deficiency: a disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment","volume":"113","author":"Vilarinho","year":"2016","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mam.2017.03.003_bib87","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.2174\/138920012803762747","article-title":"Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites","volume":"13","author":"Wanders","year":"2012","journal-title":"Curr. Drug Metab."},{"key":"10.1016\/j.mam.2017.03.003_bib88","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1146\/annurev.biochem.74.082803.133329","article-title":"Biochemistry of mammalian peroxisomes revisited","volume":"75","author":"Wanders","year":"2006","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.mam.2017.03.003_bib89","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.bbamcr.2015.11.015","article-title":"Human disorders of peroxisome metabolism and biogenesis","volume":"1863","author":"Waterham","year":"2016","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"10.1016\/j.mam.2017.03.003_bib90","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1046\/j.1440-1754.2001.00751.x","article-title":"3beta-hydroxy-delta5 -C27-steroid dehydrogenase deficiency: diagnosis and treatment","volume":"37","author":"Yamato","year":"2001","journal-title":"J.\u00a0Paediatr. Child. Health"},{"key":"10.1016\/j.mam.2017.03.003_bib91","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1373\/clinchem.2015.238238","article-title":"Tandem mass spectrometric determination of atypical 3\u03b2-hydroxy-\u03945-bile acids in patients with 3\u03b2-hydroxy-\u03945-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response","volume":"61","author":"Zhang","year":"2015","journal-title":"Clin. Chem."}],"container-title":["Molecular Aspects of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0098299717300146?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0098299717300146?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,26]],"date-time":"2022-07-26T19:56:01Z","timestamp":1658865361000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0098299717300146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":91,"alternative-id":["S0098299717300146"],"URL":"https:\/\/doi.org\/10.1016\/j.mam.2017.03.003","relation":{},"ISSN":["0098-2997"],"issn-type":[{"value":"0098-2997","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bile acid analysis in human disorders of bile acid biosynthesis","name":"articletitle","label":"Article Title"},{"value":"Molecular Aspects of Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mam.2017.03.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}