{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T10:53:27Z","timestamp":1771584807494,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1992,7,31]],"date-time":"1992-07-31T00:00:00Z","timestamp":712540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1993,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>X\u2010linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disease characterized by progressive demyelination, adrenocortical insufficiency and accumulation in tissues and body fluids of unbranched, saturated very long\u2010chain fatty acids (VLCFA). The diagnosis of ALD is usually based on clinical history, neurological examination and the determination of levels of VLCFA in plasma and cultured skin fibroblasts.<\/jats:p><jats:p>In the present paper we report the biochemical findings in plasma, cultured skin fibroblasts and lymphoblastoid cell lines from ALD patients. The results obtained indicate that the increment of the ratios C<jats:sub>24:0<\/jats:sub> to C<jats:sub>22:0<\/jats:sub> and C<jats:sub>26:0<\/jats:sub> to C<jats:sub>22:0<\/jats:sub> and of the concentration C<jats:sub>26:0<\/jats:sub> (\u00b5g\/ml) in plasma was parallel with that of fibroblasts, but not with that of Epstein\u2010Barr virus (EBV)\u2010transformed lymphocytes, suggesting that this cell line is not reliable for diagnosis of ALD by VLCFA analysis.<\/jats:p><jats:p>Subsequent studies carried out on family members revealed heterozygotes other than obligate carriers and hemizygotes who were pre\u2010symptomatic or had a misdiagnosis of multiple sclerosis or psychosis.<\/jats:p>","DOI":"10.1007\/bf00711315","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:37:33Z","timestamp":1101803853000},"page":"55-62","source":"Crossref","is-referenced-by-count":4,"title":["Characterization of X\u2010linked adrenoleukodystrophy in different biological specimens from ten Portuguese families"],"prefix":"10.1002","volume":"16","author":[{"given":"P.","family":"Jorge","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es Unidade de Enzimologia  Praca Pedro Nunes 74 Porto 4000 Portugal"}]},{"given":"D.","family":"Quelhas","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es Unidade de Enzimologia  Praca Pedro Nunes 74 Porto 4000 Portugal"}]},{"given":"A.","family":"Nogueira","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es Unidade de Enzimologia  Praca Pedro Nunes 74 Porto 4000 Portugal"}]}],"member":"311","published-online":{"date-parts":[[1992,7,31]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90229-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)64849-5"},{"key":"e_1_2_1_4_1","first-page":"240","article-title":"Conclusive evidence that very\u2010long\u2010chain fatty acids are oxidized exclusively in peroxisomes in human skin fibroblasts","volume":"21","author":"Jakobs BS","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"key":"e_1_2_1_5_1","first-page":"129","article-title":"Adrenoleucodistrofia: Estudo em doentes que Apresentam Apenas Insufici\u00eancia da Gl\u00e2ndula Suprarrenal","volume":"6","author":"Jorge PM","year":"1992","journal-title":"Arquivos de Medicina"},{"key":"e_1_2_1_6_1","first-page":"31","article-title":"A human skin culture technique used for cytological examinations","volume":"41","author":"Harnden DG","year":"1960","journal-title":"Br J Exp Pathol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799648"},{"key":"e_1_2_1_8_1","first-page":"1511","volume-title":"The Metabolic Basis of Inherited Disease","author":"Moser HW","year":"1989"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070607"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.10.1241"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80775-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160603"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000112170"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799621"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279094"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(81)80142-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799330"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01812846"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711315","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF00711315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T10:23:31Z","timestamp":1694859811000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF00711315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,7,31]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1993,1]]}},"alternative-id":["10.1007\/BF00711315"],"URL":"https:\/\/doi.org\/10.1007\/bf00711315","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,7,31]]}}}