{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:03:37Z","timestamp":1760979817092},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1985,6,1]],"date-time":"1985-06-01T00:00:00Z","timestamp":486432000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1985,6]]},"DOI":"10.1007\/bf00273077","type":"journal-article","created":{"date-parts":[[2004,9,19]],"date-time":"2004-09-19T22:22:53Z","timestamp":1095632573000},"page":"172-177","source":"Crossref","is-referenced-by-count":54,"title":["Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease: Plasma changes and skin fibroblast phytanic acid oxidase"],"prefix":"10.1007","volume":"70","author":[{"given":"A.","family":"Poulos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Sharp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J.","family":"Fellenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Danks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,8,11]]},"reference":[{"key":"BF00273077_CR1","doi-asserted-by":"publisher","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 in clinical and biochemical diagnosis. Aust NZ J Med 13:594\u2013600","journal-title":"Aust NZ J Med"},{"key":"BF00273077_CR2","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1016\/0968-0004(83)90077-4","volume":"8","author":"P Borst","year":"1983","unstructured":"Borst P (1983) Animal peroxisomes (microbodies) lipid biosynthesis and the Zellweger syndrome. Trends Biochem Sci 8:269\u2013272","journal-title":"Trends Biochem Sci"},{"key":"BF00273077_CR3","first-page":"344","volume":"151","author":"FR Brown","year":"1982","unstructured":"Brown FR, McAdams AJ, Cullins 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\u2013351","journal-title":"Johns Hopkins Med J"},{"key":"BF00273077_CR4","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/S0022-3476(81)80393-9","volume":"99","author":"BK Burton","year":"1981","unstructured":"Burton BK, Reed SP, Remy WT (1981) Hyperpipecolic acidemia: Clinical and biochemical observations in two male siblings. J Pediatr 99:729\u2013734","journal-title":"J Pediatr"},{"key":"BF00273077_CR5","doi-asserted-by":"publisher","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-hepatorenal 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":"BF00273077_CR6","volume-title":"Handbook of clinical neurology. Metabolic disorders of the nervous system","author":"L Eldjarn","year":"1975","unstructured":"Eldjarn L, Stokke P, Try K (1975) Biochemical aspects of Refsum's disease and principles for the dietary treatment. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology. Metabolic disorders of the nervous system. North Holland Publishing, Amsterdam"},{"key":"BF00273077_CR7","first-page":"379","volume":"4","author":"K Farrell","year":"1983","unstructured":"Farrell K, Dimmick JE, Applegarth DA, Wong LE, Tze WJ, McCormich AQ, Jan JE, Moser HW (1983) Peroxisomal abnormalities in neonatal adrenoleukodystrophy. Ann Neurol 4:379\u2013380","journal-title":"Ann Neurol"},{"key":"BF00273077_CR8","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/S0021-9258(18)64849-5","volume":"226","author":"J Folch","year":"1957","unstructured":"Folch J, Lees M, Sloane-Stanley J (1957) A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 226:497\u2013509","journal-title":"J Biol Chem"},{"key":"BF00273077_CR9","first-page":"1215","volume":"99","author":"PD Gatfield","year":"1968","unstructured":"Gatfield PD, Taller E, Hinton GG, Wallace AC, Abdelnour GM, Haust MD (1968) Hyperpipecolatemia: A new metabolic disorder associated with neuropathy and hepatomegaly. Can Med Assoc J 99:1215\u20131233","journal-title":"Can Med Assoc J"},{"key":"BF00273077_CR10","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1111\/j.1749-6632.1982.tb21470.x","volume":"386","author":"S Goldfischer","year":"1982","unstructured":"Goldfischer S (1982) Peroxisomes and human metabolic diseases. The cerebro-hepato-renal syndrome (CHRS), cerebrotendinous xanthomatosis and Schilder's disease (adrenoleukodystrophy). Ann NY Acad Sci 386:526\u2013529","journal-title":"Ann NY Acad Sci"},{"key":"BF00273077_CR11","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1172\/JCI108127","volume":"56","author":"RF Hanson","year":"1975","unstructured":"Hanson RF, Isenberg JN, Williams JC, Hackey D, Szczepanik P, Klein PD, Sharp HL (1975) The metabolism of 3\u03b1, 7\u03b1, 12\u03b1-trihydroxy-5B-cholestan-26-oic acid in two siblings with cholestasis due to intrahepatic duct abnormalities. J Clin Invest 56:577\u2013587","journal-title":"J Clin Invest"},{"key":"BF00273077_CR12","doi-asserted-by":"publisher","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":"BF00273077_CR13","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1007\/BF00442582","volume":"142","author":"H Heymans","year":"1984","unstructured":"Heymans H, Bosch HVD, Schutgens RBH, Tegelaers WHH, Walther JV, Muller-Hocker J, Borst P (1984) Deficiency of plasmalogens in the cerebro-hepato-renal (Zellweger) syndrome. Eur J Pediatr 142:10\u201315","journal-title":"Eur J Pediatr"},{"key":"BF00273077_CR14","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/0003-2697(82)90402-X","volume":"125","author":"M Inomata","year":"1982","unstructured":"Inomata M, Takaku F, Nagai Y, Saita M (1982) Assay of polyunsaturated fatty acids by argentation \u2014 thin layer chromatography using commercial thin-layer plates. Anal Biochem 125:197\u2013202","journal-title":"Anal Biochem"},{"key":"BF00273077_CR15","first-page":"100","volume":"108","author":"R Jaffe","year":"1982","unstructured":"Jaffe R, Crumrine P, Hashida Y, Moser HW (1982) Neonatal adrenoleukodystrophy: Clinical, pathologic and biochemical delineation of a syndrome affecting both males and females. Am J Pathol 108:100\u2013111","journal-title":"Am J Pathol"},{"key":"BF00273077_CR16","doi-asserted-by":"publisher","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":"BF00273077_CR17","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1002\/ana.410070607","volume":"7","author":"HW Moser","year":"1980","unstructured":"Moser HW, Moser AB, Kawamura N, Murphy J, Suzuki K, Schaumburg H, Kishimoto Y (1980) Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts. Ann Neurol 7:542\u2013549","journal-title":"Ann Neurol"},{"key":"BF00273077_CR18","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.1212\/WNL.31.10.1241","volume":"31","author":"HW Moser","year":"1981","unstructured":"Moser HW, Moser AB, Frayer KK, Chen W, Schulman JD, O'Neill BP, Kishimoto Y (1981) Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids. Neurology (NY) 31:1241\u20131249","journal-title":"Neurology (NY)"},{"key":"BF00273077_CR19","doi-asserted-by":"publisher","first-page":"1141","DOI":"10.1056\/NEJM198405033101802","volume":"310","author":"AB Moser","year":"1984","unstructured":"Moser AB, Singh I, Brown FR, Solish GI, Kelley RI, Benke PJ, Moser HW (1984) The cerebrohepatorenal (Zellweger) syndrome: Increased 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":"BF00273077_CR20","first-page":"379","volume":"14","author":"MJ Noetzel","year":"1983","unstructured":"Noetzel MJ, Clark B, Moser HW (1983) Neonatal adrenoleukodystrophy with prolonged survival. Ann Neurol 14:379\u2013380","journal-title":"Ann Neurol"},{"key":"BF00273077_CR21","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1172\/JCI109806","volume":"65","author":"H Oftebro","year":"1980","unstructured":"Oftebro H, Bjorkhem I, Skrede S, Schreiner A, Pedersen JI (1980) Cerebrotendinous xanthomatosis, a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid. J Clin Invest 65:1418\u20131430","journal-title":"J Clin Invest"},{"key":"BF00273077_CR22","doi-asserted-by":"publisher","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":"BF00273077_CR23","doi-asserted-by":"publisher","first-page":"1606","DOI":"10.1212\/WNL.34.12.1606","volume":"34","author":"A Poulos","year":"1984","unstructured":"Poulos A, Sharp P (1984) Plasma and skin fibroblasts C26 fatty acids in infantile Refsum's disease. Neurology (NY) 34:1606\u20131609","journal-title":"Neurology (NY)"},{"key":"BF00273077_CR24","unstructured":"Poulos A, Whiting M (to be published) Identification of 3,7,12-trihydroxy-5-cholestan-26-oic acid, and intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease. J Inherited Metab Dis"},{"key":"BF00273077_CR25","doi-asserted-by":"publisher","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 (1984a) Infantile Refsum's disease (phytanic acid storage disease). A variant of Zellweger's syndrome? Clin Genet 26:579\u2013586","journal-title":"Clin Genet"},{"key":"BF00273077_CR26","doi-asserted-by":"publisher","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 (1984b) Patterns of Refsum's disease. Phytanic acid oxidase deficiency. Arch Dis Child 59:222\u2013229","journal-title":"Arch Dis Child"},{"key":"BF00273077_CR27","first-page":"181","volume-title":"Handbook of clinical neurology: Metabolic disorders of the nervous system","author":"S Refsum","year":"1975","unstructured":"Refsum S (1975) Heredopathia atactica polyneuritiformis. Phytanic acid storage disease (Refsum's disease). In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology: Metabolic disorders of the nervous system. North Holland Publishing, Amsterdam, pp 181\u2013229"},{"key":"BF00273077_CR28","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1001\/archneur.1975.00490510033001","volume":"32","author":"HH Schaumburg","year":"1975","unstructured":"Schaumburg HH, Powers JM, Raine CS (1975) Adrenoleukodystrophy: A clinical and pathological study of 17 cases. Arch Neurol 32:577\u2013591","journal-title":"Arch Neurol"},{"key":"BF00273077_CR29","doi-asserted-by":"publisher","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, Schrakamp 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":"BF00273077_CR30","doi-asserted-by":"publisher","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 P, Beucler I, 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":"BF00273077_CR31","doi-asserted-by":"publisher","first-page":"286","DOI":"10.1203\/00006450-198403000-00016","volume":"18","author":"I Singh","year":"1984","unstructured":"Singh I, Moser AE, Moser HW, Kishimoto Y (1984) Adrenoleukodystrophy\u2014impaired oxidation of very long chain fatty acids in white blood cells, cultured skin fibroblasts and amniocytes. Pediatr Res 18:286\u2013289","journal-title":"Pediatr Res"},{"key":"BF00273077_CR32","first-page":"688","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 JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw-Hill Book Co, New York, pp 688\u2013706"},{"key":"BF00273077_CR33","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1111\/j.1399-0004.1975.tb01517.x","volume":"8","author":"GH Thomas","year":"1975","unstructured":"Thomas GH, Haslam RHA, Batshaw ML, Capute AJ, Niedengard L, Ransom JL (1975) Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic dysplasia and progressive neurological disease. Clin Genet 8:376\u2013382","journal-title":"Clin Genet"},{"key":"BF00273077_CR34","first-page":"2628","volume":"244","author":"SC Tsai","year":"1969","unstructured":"Tsai SC, Avigan J, Steinberg D (1969) Studies on the \u03b1-oxidation of phytanic acid by rat liver mitochondria. J Biol Chem 244:2628\u20132692","journal-title":"J Biol Chem"},{"key":"BF00273077_CR35","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1203\/00006450-197001000-00011","volume":"4","author":"NC Woody","year":"1970","unstructured":"Woody NC, Pupene MB (1970) Excretion of pipecolic acid by infants and by patients with hyperlysinemia. Pediatr Res 4:89\u201395","journal-title":"Pediatr Res"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00273077.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00273077\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00273077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00273077.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,25]],"date-time":"2021-06-25T20:25:45Z","timestamp":1624652745000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00273077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,6]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,6]]}},"alternative-id":["BF00273077"],"URL":"https:\/\/doi.org\/10.1007\/bf00273077","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,6]]}}}