{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T20:30:13Z","timestamp":1776889813587,"version":"3.51.2"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1990,6,1]],"date-time":"1990-06-01T00:00:00Z","timestamp":644198400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[1990,6]]},"DOI":"10.1007\/bf00314598","type":"journal-article","created":{"date-parts":[[2004,12,10]],"date-time":"2004-12-10T05:22:13Z","timestamp":1102656133000},"page":"216-219","source":"Crossref","is-referenced-by-count":36,"title":["Cerebrotendinous xanthomatosis: clinical, electrophysiological and nerve biopsy findings, and response to treatment with chenodeoxycholic acid"],"prefix":"10.1007","volume":"237","author":[{"given":"M.","family":"Donaghy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. H. M.","family":"King","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. O.","family":"McKeran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. S.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. K.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/ana.410200115","volume":"20","author":"Z Argov","year":"1986","unstructured":"Argov Z, Soffer D, Eisenberg S, Zimmerman Y (1986) Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis. Ann Neurol 20:89?91","journal-title":"Ann Neurol"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1111\/j.1365-2818.1977.tb01145.x","volume":"109","author":"PS Baur","year":"1977","unstructured":"Baur PS, Stacey TR (1977) The use of PIPES buffer in the fixation of mammalian and marine tissues for electron microscopy. J Microsc 109:315?327","journal-title":"J Microsc"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/BF01011130","volume":"4","author":"OB Bayliss","year":"1972","unstructured":"Bayliss OB, Adams CWM (1972) Bromine Sudan black (BSB). A general stain for tissue lipids, including free cholesterol. Histochem J 4:505?515","journal-title":"Histochem J"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1056\/NEJM198412273112601","volume":"311","author":"VM Berginer","year":"1984","unstructured":"Berginer VM, Salen G, Shefer S (1984) Long term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649?1652","journal-title":"N Engl J Med"},{"key":"CR5","first-page":"656","volume-title":"The metabolic basis of inherited disease","author":"AK Bhattacharyya","year":"1978","unstructured":"Bhattacharyya AK, Connor WE (1978) Familial diseases with storage of sterols other than cholesterol. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease. McGraw Hill, New York, pp 656?669"},{"key":"CR6","first-page":"241","volume":"96","author":"D Gardner-Medwin","year":"1971","unstructured":"Gardner-Medwin D, Kishimoto Y, Derby DM, Moser HW (1971) Cerebrotendinous xanthomatosis: in vivo labelling of cerebral sterols and sterol esters. Trans Am Neurol Assoc 96:241?244","journal-title":"Trans Am Neurol Assoc"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1016\/S0022-2275(20)34761-1","volume":"21","author":"T Hoshita","year":"1980","unstructured":"Hoshita T, Yasuhara M, Une M, Kibe A, Itoga E, Kito S, Kuramoto T (1980) Occurrence of bile alcohol glucuronides in bile of patients with cerebrotendinous xanthomatosis. J Lipid Res 21:1015?1021","journal-title":"J Lipid Res"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1093\/brain\/108.4.897","volume":"108","author":"JM Jacobs","year":"1985","unstructured":"Jacobs JM, Love S (1985) Qualitative and quantitative morphometry of human sural nerve at different ages. Brain 108:897?924","journal-title":"Brain"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1212\/WNL.29.6.880","volume":"29","author":"A Kuritsky","year":"1979","unstructured":"Kuritsky A, Berginer VM, Korczyn AD (1979) Peripheral neuropathy in cerebrotendinous xanthomatosis. Neurology 29:880?881","journal-title":"Neurology"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1172\/JCI109806","volume":"66","author":"H Oftebro","year":"1980","unstructured":"Oftebro H, Bj\u00f6rkhem 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 66:1418?1430","journal-title":"J Clin Invest"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/BF00691803","volume":"45","author":"A Ohnishi","year":"1979","unstructured":"Ohnishi A, Yamashita Y, Goto I, Kuroiwa Y, Murakami S (1979) De- and remyelination and onion bulb in cerebrotendinous xanthomatosis. Acta Neuropathol (Berl) 45:43?45","journal-title":"Acta Neuropathol"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1002\/ana.410180418","volume":"18","author":"TA Pedley","year":"1985","unstructured":"Pedley TA, Emerson RG, Warner CL, Rowland LP, Salen G (1985) Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. Ann Neurol 18:517?518","journal-title":"Ann Neurol"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1001\/archneur.1969.00480180059004","volume":"21","author":"M Phillipart","year":"1969","unstructured":"Phillipart M, Bogaert L van (1969) Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family. Arch Neurol 21:603?610","journal-title":"Arch Neurol"},{"key":"CR14","first-page":"714","volume-title":"The metabolic basis of inherited disease","author":"G Salen","year":"1983","unstructured":"Salen G, Shefer S, Berginer VM (1983) Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw Hill, New York, pp 714?724","edition":"5th edn"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1056\/NEJM198705143162002","volume":"316","author":"G Salen","year":"1987","unstructured":"Salen G, Berginer V, Shore V, Horak I, Horak E, Tint GS, Shefer S (1987) Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid. N Engl J Med 316:1233?1238","journal-title":"N Engl J Med"},{"key":"CR16","first-page":"314","volume":"35","author":"A Schultz","year":"1924","unstructured":"Schultz A (1924) Eine Methode des mikrochemischen Cholesterin-Nachweises am Gewebsschnitt. Zentralbl Allg Pathol Anat 35:314?317","journal-title":"Zentralbl Allg Pathol Anat"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/S0022-2275(20)36715-8","volume":"16","author":"S Shefer","year":"1975","unstructured":"Shefer S, Dayal B, Tint GS, Salen G, Mosbach EH (1975) Identification of pentahydroxy bile alcohols in cerebrotendinous xanthomatosis. J Lipid Res 16, 280?286","journal-title":"J Lipid Res"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"195","DOI":"10.3109\/10520297109067853","volume":"46","author":"J Sievers","year":"1971","unstructured":"Sievers J (1971) Basic two-dye stains for epoxy-embedded 0.3-1? sections. Stain Technol 46:195?199","journal-title":"Stain Technol"},{"key":"CR19","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1212\/WNL.35.8.1212","volume":"35","author":"MR Sperling","year":"1985","unstructured":"Sperling MR, Herrmann C (1985) Syndrome of palatal myoclonus and progressive ataxia: two cases with magnetic resonance imaging. Neurology 35:1212?1214","journal-title":"Neurology"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/0009-8981(83)90352-2","volume":"131","author":"BG Wolthers","year":"1983","unstructured":"Wolthers BG, Volmer M, Molen J van der, Koopman BJ, Jager AEJ de, Waterreus RJ (1983) Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. Clin Chim Acta 131:53?65","journal-title":"Clin Chim Acta"}],"container-title":["Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00314598.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00314598\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00314598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T23:18:38Z","timestamp":1625095118000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00314598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,6]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,6]]}},"alternative-id":["BF00314598"],"URL":"https:\/\/doi.org\/10.1007\/bf00314598","relation":{},"ISSN":["0340-5354","1432-1459"],"issn-type":[{"value":"0340-5354","type":"print"},{"value":"1432-1459","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,6]]}}}