{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T22:05:47Z","timestamp":1770674747064,"version":"3.49.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[1986,12,1]],"date-time":"1986-12-01T00:00:00Z","timestamp":533779200000},"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":[[1986,12]]},"DOI":"10.1007\/bf02429053","type":"journal-article","created":{"date-parts":[[2006,6,7]],"date-time":"2006-06-07T14:48:21Z","timestamp":1149691701000},"page":"507-510","source":"Crossref","is-referenced-by-count":18,"title":["Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid"],"prefix":"10.1007","volume":"145","author":[{"given":"A.","family":"Poulos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"van Crugten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. F.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M. O.","family":"Becroft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. M.","family":"Saudubray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. T.","family":"Poll-The","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Christensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02429053_CR1","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1111\/j.1445-5994.1983.tb02611.x","volume":"13","author":"SF Berkovic","year":"1983","unstructured":"Berkovic SF, Zajac JD, Warburton DJ, Merory JD, Fellenberg AJ, Poulos A, Pollard AC (1983) Adrenomyeloneuropathy. Clinical and biochemical diagnosis. Aust NZ J Med 13:594\u2013600","journal-title":"Aust NZ J Med"},{"key":"BF02429053_CR2","first-page":"344","volume":"151","author":"FR Brown","year":"1982","unstructured":"Brown FR, McAdams AJ, Cummins JW, Konkol R, Singh I, Moser AB, Moser HW (1982) Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy. Similarities in phenotype and accumulation of very long chain fatty acids. Johns Hopkins Med J 151:344\u2013361","journal-title":"Johns Hopkins Med J"},{"key":"BF02429053_CR3","doi-asserted-by":"crossref","first-page":"203","DOI":"10.5694\/j.1326-5377.1984.tb103995.x","volume":"140","author":"WF Carey","year":"1984","unstructured":"Carey WF, Hopwood JJ, Poulos A, Petersons D, Nelson PV, Muller V, Harrison R, Pollard AC (1984) Prenatal diagnosis of lysosomal storage diseases. Review of experience of 145 patient referrals over a period of 8 years. Med J Aust 140:203\u2013208","journal-title":"Med J Aust"},{"key":"BF02429053_CR4","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1016\/S0022-3476(75)80967-X","volume":"86","author":"DM Danks","year":"1975","unstructured":"Danks DM, Tippett P, Adams C, Campbell P (1975) Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, liver lesion and a fault in pipecolic acid metabolism. J Pediatr 86:328\u2013387","journal-title":"J Pediatr"},{"key":"BF02429053_CR5","doi-asserted-by":"crossref","first-page":"1080","DOI":"10.1056\/NEJM198410253111704","volume":"311","author":"NS Datta","year":"1984","unstructured":"Datta NS, Wilson GN, Hajra AK (1984) Deficiency of enzymes catalysing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. New Engl J Med 311:1080\u20131083","journal-title":"New Engl J Med"},{"key":"BF02429053_CR6","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1126\/science.424737","volume":"203","author":"RF Hanson","year":"1979","unstructured":"Hanson RF, Szcepanik-van Leeuwen P, Williams GC, Grabowski G, Sharp HL (1979) Defects of bile acid synthesis in Zellweger's syndrome. Science 203:1107\u20131108","journal-title":"Science"},{"key":"BF02429053_CR7","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/pd.1970040407","volume":"4","author":"DE Heaton","year":"1984","unstructured":"Heaton DE, Czepulkowski BH, Horwell DH, Coleman V (1984) Chromosome analysis of first trimester chorionic villous biopsies prepared by a maceration technique. Prenatal Diagnosis 4:279\u2013287","journal-title":"Prenatal Diagnosis"},{"key":"BF02429053_CR8","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/306069a0","volume":"306","author":"HSA Heymans","year":"1983","unstructured":"Heymans HSA, Schutgens RBH, Tan R, Van den Bosch H, Borst P (1983) Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306:69\u201370","journal-title":"Nature"},{"key":"BF02429053_CR9","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1002\/ajmg.1320160409","volume":"16","author":"RI Kelley","year":"1983","unstructured":"Kelley RI (1983) The cerebrohepatorenal syndrome of Zellweger. Morphologic and metabolic aspects. Am J Med Genet 16:503\u2013517","journal-title":"Am J Med Genet"},{"key":"BF02429053_CR10","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1056\/NEJM198405033101802","volume":"310","author":"AB Moser","year":"1984","unstructured":"Moser AB, Singh I, Brown FR, Solish GT, Kelley RI, Benke PJ, Moser HW (1984) The cerebrohepatorenal (Zellweger) syndrome: increase levels and impaired degradation of very long chain fatty acids and their use in prenatal diagnosis. N Engl J Med 310:1141\u20131146","journal-title":"N Engl J Med"},{"key":"BF02429053_CR11","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1111\/j.1399-0004.1985.tb00246.x","volume":"27","author":"BT Poll-The","year":"1985","unstructured":"Poll-The BT, Poulos A, Sharp P, Boue J, Ogier H, Odievre M, Saudubray JM (1985) Antenatal diagnosis of infantile Refsum's disease. Clin Genet 27:524\u2013526","journal-title":"Clin Genet"},{"key":"BF02429053_CR12","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/j.1399-0004.1981.tb01029.x","volume":"20","author":"A Poulos","year":"1981","unstructured":"Poulos A (1981) Diagnosis of Refsum's disease using [1-14C] phytanic acid as substrate. Clin Genet 20:247\u2013253","journal-title":"Clin Genet"},{"key":"BF02429053_CR13","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1007\/BF02534112","volume":"15","author":"A Poulos","year":"1980","unstructured":"Poulos A, Barone E, Johnson DW (1980) Partial Synthesis of [1-14C]phytanic acid. Lipids 15:19\u201321","journal-title":"Lipids"},{"key":"BF02429053_CR14","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. Phytamic acid oxidase deficiency. Arch Dis Child 59:222\u2013229","journal-title":"Arch Dis Child"},{"key":"BF02429053_CR15","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 Zellweger's syndrome. Clin Genet 26:579\u2013586","journal-title":"Clin Genet"},{"key":"BF02429053_CR16","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1007\/BF00273077","volume":"70","author":"A Poulos","year":"1985","unstructured":"Poulos A, Sharp P, Fellenberg AJ, Danks DM (1985) Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy and Refsum's disease: plasma changes and skin fibroblast phytamic acid oxidase. Hum Genet 70:172\u2013177","journal-title":"Hum Genet"},{"key":"BF02429053_CR17","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.1399-0004.1986.tb00511.x","volume":"29","author":"A Poulos","year":"1986","unstructured":"Poulos A, Singh H, Sharp P, Paton B, Derwas N (1986) Accumulation and defective B-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants. Clin Genet 29:397\u2013408","journal-title":"Clin Genet"},{"key":"BF02429053_CR18","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1016\/S0140-6736(84)90847-X","volume":"ii","author":"RBH Schutgens","year":"1984","unstructured":"Schutgens RBH, Heymans HSA, Wanders RJA, van den Bosch H, Schrakamp G (1984) Prenatal detection of Zellweger syndrome. Lancet ii, 1339\u20131340","journal-title":"Lancet"},{"key":"BF02429053_CR19","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 den Bosch H, Schrakamps G, Heymans HSA (1984) Deficiency of acyl-CoA: dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem Biophys Res Commun 120:179\u2013184","journal-title":"Biochem Biophys Res Commun"},{"key":"BF02429053_CR20","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1002\/pd.1970050506","volume":"5","author":"RBH Schutgens","year":"1985","unstructured":"Schutgens RBH, Schrakamp G, Wanders RJA, Heymans HSA, Moser HW, Moser AE, Tager JM, van den Bosch H, Aubourgh P (1985) The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens. Prenatal Diag 5:337\u2013344","journal-title":"Prenatal Diag"},{"key":"BF02429053_CR21","volume-title":"The metabolic basis of inherited disease","author":"D Steinberg","year":"1978","unstructured":"Steinberg D (1978) Phytanic acid storage disease: refsum's syndrome. In: Stanbury JD, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York"},{"key":"BF02429053_CR22","first-page":"7140","volume":"156","author":"D. Steinberg","year":"1976","unstructured":"Steinberg D., Herndon JH, Uhlendorf BW, Mize CE, Milne GWA (1976) Refsum's disease: nature of the enzyme defect. Science 156:7140\u20137142","journal-title":"Science"},{"key":"BF02429053_CR23","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/BF01799453","volume":"9","author":"JT Crugten Van","year":"1986","unstructured":"Van Crugten JT, Paton B, Poulos A (1986) Partial deficiency of dihydroxyacetonephosphate acyltransferase activity in both classical and infantile Refsum's disease. J Inherited Metab Dis 9:163\u2013168","journal-title":"J Inherited Metab Dis"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02429053.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02429053\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02429053","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T09:42:21Z","timestamp":1586943741000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02429053"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,12]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1986,12]]}},"alternative-id":["BF02429053"],"URL":"https:\/\/doi.org\/10.1007\/bf02429053","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,12]]}}}