{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T16:53:53Z","timestamp":1765040033356},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1987,3,1]],"date-time":"1987-03-01T00:00:00Z","timestamp":541555200000},"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":[[1987,3]]},"DOI":"10.1007\/bf02343226","type":"journal-article","created":{"date-parts":[[2006,3,15]],"date-time":"2006-03-15T19:16:56Z","timestamp":1142450216000},"page":"166-173","source":"Crossref","is-referenced-by-count":50,"title":["Plasma bile acids in patients with peroxisomal dysfunction syndromes: analysis by capillary gas chromatography \u2014 mass spectrometry"],"prefix":"10.1007","volume":"146","author":[{"given":"P. T.","family":"Clayton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. D.","family":"Lake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. A.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. B.","family":"Shortland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Carruthers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. M.","family":"Lawson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02343226_CR1","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1016\/0022-4731(74)90060-0","volume":"5","author":"M Axelson","year":"1974","unstructured":"Axelson M, Sj\u00f6vall J (1974) Separation and computerised gas chromatography-mass spectrometry of unconjugated neutral steroids in plasma. J Steroid Biochem 5:733\u2013738","journal-title":"J Steroid Biochem"},{"key":"BF02343226_CR2","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/BF01724209","volume":"60","author":"P Back","year":"1982","unstructured":"Back P (1982) Phenobarbital-induced alterations of bile acid metabolism in cases of intrahepatic cholestasis. Klin Wochenschr 60:541\u2013549","journal-title":"Klin Wochenschr"},{"key":"BF02343226_CR3","first-page":"329","volume":"5","author":"P Back","year":"1978","unstructured":"Back P, Gerok W (1978) Zum Effekt des Phenobarbitals bei intrahepatischer Cholestase-Stimulierung der gallensauren 6\u03b1-Hydroxylierung. Inn Med 5:329\u2013336","journal-title":"Inn Med"},{"key":"BF02343226_CR4","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1007\/BF00441774","volume":"144","author":"PG Barth","year":"1985","unstructured":"Barth PG, Schutgens RBH, Bakkeren JAJM, Dingemans KP, Heymans HSA, Douwes AC, van der Klei-van Moorsel JM (1985) A milder variant of Zellweger syndrome. Eur J Pediatr 144:338\u2013342","journal-title":"Eur J Pediatr"},{"key":"BF02343226_CR5","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1111\/j.1399-0004.1986.tb01242.x","volume":"29","author":"EM Bleeker-Wagemakers","year":"1986","unstructured":"Bleeker-Wagemakers EM, Oorthuys JWE, Wanders RJA, Schutgens RBH (1986) Long-term survival of a patient with the cerebrohepato-renal (Zellweger) syndrome. Clin Genet 29:160\u2013164","journal-title":"Clin Genet"},{"key":"BF02343226_CR6","unstructured":"Clayton PT (1984) The validation and application of an assay for the measurement of bile salts in the plasma of infants and children. M.D. Thesis, University of Cambridge"},{"key":"BF02343226_CR7","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/0009-8981(80)90122-9","volume":"105","author":"PT Clayton","year":"1980","unstructured":"Clayton PT, Muller DPR (1980) A simplified gas liquid chromatographic method for the estimation of non-sulphated plasma bile acids. Clin Chim Acta 105:401\u2013405","journal-title":"Clin Chim Acta"},{"key":"BF02343226_CR8","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1042\/bj2060489","volume":"206","author":"PT Clayton","year":"1982","unstructured":"Clayton PT, Muller DPR, Lawson AM (1982) The bile acid composition of gastric contents from neonates with high intestinal obstruction. Biochem J 206:489\u2013498","journal-title":"Biochem J"},{"key":"BF02343226_CR9","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1021\/ac60361a025","volume":"47","author":"HD Durst","year":"1975","unstructured":"Durst HD, Milanu M, Kikta EJ, Connelly SA, Grushka E (1975) Phenacyl esters of fatty acids via crown ether catalyst for enhanced ultraviolet detection in liquid chromatography. Anal Chem 47:1797\u20131801","journal-title":"Anal Chem"},{"key":"BF02343226_CR10","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/j.1651-2227.1985.tb11025.x","volume":"74","author":"H Eyssen","year":"1985","unstructured":"Eyssen H, Eggermont E, Van Eldere J, Jaeken J, Parmentier G, Janssen G (1985) Bile acid abnormalities and the diagnosis of the cerebro-hepato-renal syndrome (Zellweger syndrome). Acta Paediatr Scand 74:539\u2013544","journal-title":"Acta Paediatr Scand"},{"key":"BF02343226_CR11","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1126\/science.182.4107.62","volume":"182","author":"S Goldfischer","year":"1973","unstructured":"Goldfischer S, Moore CL, Johnson AB, Spiro AJ, Valasmis MP, Wisniewski HK, Ritch RH, Norton WT, Rapin I, Gartner LM (1973) Peroxisomal and mitochondrial defects in the cerebrohepatorenal syndrome. Science 182:62\u201364","journal-title":"Science"},{"key":"BF02343226_CR12","doi-asserted-by":"crossref","first-page":"10896","DOI":"10.1016\/S0021-9258(19)86607-3","volume":"254","author":"AK Hajra","year":"1979","unstructured":"Hajra AK, Burke CL, Jones CL (1979) Subcellular localisation of acyl coenzyme A: dihydroxyacetone phosphate acyl transferase in rat liver peroxisomes (microbodies). J Biol Chem 254:10896\u201310900","journal-title":"J Biol Chem"},{"key":"BF02343226_CR13","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1126\/science.424737","volume":"203","author":"RF Hanson","year":"1978","unstructured":"Hanson RF, Szczepanik-Van Leeuwen P, Williams GC, Grabowski G, Sharp HL (1978) Defects of bile acid synthesis in Zellweger's syndrome. Science 203:1107\u20131108","journal-title":"Science"},{"key":"BF02343226_CR14","first-page":"187","volume":"313","author":"HSA Heymans","year":"1985","unstructured":"Heymans HSA, Oorthuys JWE, Nelck G, Wanders RJA, Schutgens RBH (1985) Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. N Engl J Med 313:187\u2013188","journal-title":"N Engl J Med"},{"key":"BF02343226_CR15","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/S0022-2275(20)38143-8","volume":"23","author":"G Janssen","year":"1982","unstructured":"Janssen G, Toppet S, Parmentier G (1982) Structure of the side chain of the C29 dicarboxylic bile acid occurring in infants with coprostanic acidaemia. J Lipid Res 23:456\u2013465","journal-title":"J Lipid Res"},{"key":"BF02343226_CR16","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1016\/S0022-2275(20)37854-8","volume":"24","author":"BF Kase","year":"1983","unstructured":"Kase BF, Bj\u00f6rkhem I, Pedersen JI (1983) Formation of cholic acid from 3\u03b1,7\u03b1,12\u03b1-trihydroxy-5\u03b2-cholestanoic acid by rat liver peroxisomes. J Lipid Res 24:1560\u20131567","journal-title":"J Lipid Res"},{"key":"BF02343226_CR17","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1172\/JCI111717","volume":"75","author":"BF Kase","year":"1985","unstructured":"Kase BF, Bj\u00f6rkhem I, Haga P, Pedersen JI (1985) Defective peroxisomal cleavage of the C27-steroid side chain in the cerebrohepatorenal syndrome of Zellweger. J Clin Invest 75:427\u2013435","journal-title":"J Clin Invest"},{"key":"BF02343226_CR18","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320160409","volume":"16","author":"RJ Kelley","year":"1983","unstructured":"Kelley RJ (1983) The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects. Am J Med Genet 16:503\u2013517","journal-title":"Am J Med Genet"},{"key":"BF02343226_CR19","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3109\/01913128309141833","volume":"5","author":"WJ Mool","year":"1983","unstructured":"Mool WJ, Dingemans KP, Bergh Weerman MA v d, J\u00f6bsis AC, Heymans HSA, Barth PG (1983) Ultrastructure of the liver in the cerebrohepatorenal syndrome of Zellweger. Ultrastruct Pathol 5:135\u2013144","journal-title":"Ultrastruct Pathol"},{"key":"BF02343226_CR20","doi-asserted-by":"crossref","first-page":"767","DOI":"10.3109\/00365518509155292","volume":"45","author":"H Ogler","year":"1985","unstructured":"Ogler H, Roels F, Cornelis A, Poll-The BT, Scotto JM, Odievre M, Saudubray JM (1985) Absence of hepatic peroxisomes in a case of infantile Refsum's disease. Scand J Clin Lab Invest 45: 767\u2013768","journal-title":"Scand J Clin Lab Invest"},{"key":"BF02343226_CR21","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1432-1033.1979.tb06278.x","volume":"102","author":"GG Parmentier","year":"1979","unstructured":"Parmentier GG, Janssen GA, Eggermont EA, Eyssen HJ (1979) C27 bile acids in infants with coprostanic acidaemia and occurrence of a 3\u03b1,7\u03b1,12\u03b1-trihydroxy-5\u03b2-C29-dicarboxylic bile acid as a major component in their serum. Eur J Biochem 102:173\u2013183","journal-title":"Eur J Biochem"},{"key":"BF02343226_CR22","doi-asserted-by":"crossref","unstructured":"Poll-The BT, Saudubray JM, Ogier H, Schutgens RBH, Wanders RJA, Schrakamp G, Van den Bosch H, Trybels JMF, Poulos A, Moser HW, van Eldere J, Eyssen HJ (1986) Infantile Refsum's disease: biochemical findings suggesting a generalised dysfunction of peroxisomes. J Inherited Metab Dis (in press)","DOI":"10.1007\/BF01799455"},{"key":"BF02343226_CR23","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1136\/adc.59.3.222","volume":"59","author":"A Poulos","year":"1984","unstructured":"Poulos A, Pollard AC, Mitchell JD, Wise G, Mortimer G (1984) Patterns of Refsum's disease. Phytanic acid oxidase deficiency. Arch Dis Child 59:222\u2013229","journal-title":"Arch Dis Child"},{"key":"BF02343226_CR24","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1111\/j.1399-0004.1984.tb01107.x","volume":"26","author":"A Poulos","year":"1984","unstructured":"Poulos A, Sharp P, Whiting M (1984) Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellwegers syndrome? Clin Genet 26:579\u2013586","journal-title":"Clin Genet"},{"key":"BF02343226_CR25","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/BF01805476","volume":"8","author":"A Poulos","year":"1985","unstructured":"Poulos A, Whiting MJ (1985) Identification of 3\u03b1,7\u03b1,12\u03b1-trihydroxy-5\u03b2-cholestan-26-oic acid, an intermediate in cholic acid synthesis in the plasma of patients with infantile Refsum's disease. J Inherited Metab Dis 8:13\u201317","journal-title":"J Inherited Metab Dis"},{"key":"BF02343226_CR26","doi-asserted-by":"crossref","first-page":"1471","DOI":"10.1177\/27.11.92501","volume":"27","author":"F Roels","year":"1979","unstructured":"Roels F, Goldfischer S (1979) Cytochemistry of human catalase: The demonstration of hepatic and renal peroxisomes by a high temperature procedure. J Histochem Cytochem 27:1471\u20131477","journal-title":"J Histochem Cytochem"},{"key":"BF02343226_CR27","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/0006-291X(84)91430-X","volume":"120","author":"RBH Schutgens","year":"1984","unstructured":"Schutgens RBH, Romeyn GJ, Wanders RJA, van der Bosch H, Schrakamp G, Heymans HSA (1984) Deficiency of acyl CoA: dihydroxyacetone phosphate acyltransferase in fibroblasts from patients with Zellweger (cerebro-hepato-renal\/syndrome). Biochem Biophys Res Commun 120:179\u2013184","journal-title":"Biochem Biophys Res Commun"},{"key":"BF02343226_CR28","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1007\/BF00441734","volume":"144","author":"RBH Schutgens","year":"1986","unstructured":"Schutgens RBH, Heymans HSA, Wanders RJA, Bosch H v d, Tager JM (1986) Peroxisomal disorders: A newly recognised group of genetic diseases. Eur J Pediatr 144:430\u2013440","journal-title":"Eur J Pediatr"},{"key":"BF02343226_CR29","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/BF01799998","volume":"5","author":"JM Scotto","year":"1982","unstructured":"Scotto JM, Hadchouel M, Odievre M, Laudat MH, Saudubray JM, Dulac O, Beucler L, Beaune P (1982) Infantile phytanic acid storage disease, a possible variant of Refsum's disease: three cases including ultrastructural studies of the liver. J Inherited Metab Dis 5:83\u201390","journal-title":"J Inherited Metab Dis"},{"key":"BF02343226_CR30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0009-8981(83)90070-0","volume":"127","author":"KDR Setchell","year":"1983","unstructured":"Setchell KDR, Matsui A (1983) Serum bile acid analysis. Clin Chim Acta 127:1\u201317","journal-title":"Clin Chim Acta"},{"key":"BF02343226_CR31","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0076-6879(85)11006-2","volume":"111","author":"J Sj\u00f6vall","year":"1985","unstructured":"Sj\u00f6vall J, Lawson AM, Setchell KDR (1985) Mass spectrometry of bile acids. Methods Enzymol 111:63\u2013113","journal-title":"Methods Enzymol"},{"key":"BF02343226_CR32","first-page":"190","volume":"11","author":"JW Spranger","year":"1971","unstructured":"Spranger JW, Optiz JM, Bidder U (1971) Heterogeneity of chondrodysplasia punctata. Humangenetik 11:190\u2013212","journal-title":"Humangenetik"},{"key":"BF02343226_CR33","doi-asserted-by":"crossref","first-page":"463","DOI":"10.3109\/00365518409083839","volume":"44","author":"O Stokke","year":"1984","unstructured":"Stokke O, Skrede S, EKJ, Bj\u00f6rkhem I (1984) Refsum's disease, adrenoleucodystrophy and the Zellweger syndrome. Scand J Clin Lab Invest 44:463\u2013464","journal-title":"Scand J Clin Lab Invest"},{"key":"BF02343226_CR34","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/S0022-2275(20)40678-9","volume":"19","author":"GS Tint","year":"1978","unstructured":"Tint GS, Dayal B, Batta AK, Shefer S, Cheng FW, Salen C, Mosbach EH (1978) Gas liquid chromatography-mass spectrometry of trimethylsilyl ethers of bile alchols. J Lipid Res 19:956\u2013966","journal-title":"J Lipid Res"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02343226.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02343226\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02343226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,24]],"date-time":"2021-07-24T22:59:46Z","timestamp":1627167586000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02343226"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,3]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,3]]}},"alternative-id":["BF02343226"],"URL":"https:\/\/doi.org\/10.1007\/bf02343226","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,3]]}}}