{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T23:04:40Z","timestamp":1780614280640,"version":"3.54.1"},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurology"],"published-print":{"date-parts":[[1999,4]]},"DOI":"10.1212\/wnl.52.7.1345","type":"journal-article","created":{"date-parts":[[2012,5,13]],"date-time":"2012-05-13T13:39:31Z","timestamp":1336916371000},"page":"1345-1345","source":"Crossref","is-referenced-by-count":55,"title":["Sjo\u0308gren\u2013Larsson syndrome"],"prefix":"10.1212","volume":"52","author":[{"given":"P.H. M. F.","family":"van Domburg","sequence":"first","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A. A. P.","family":"Willemsen","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.J.","family":"Rotteveel","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.G. N.","family":"de Jong","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.O. M.","family":"Thijssen","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Heerschap","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.R. M.","family":"Cruysberg","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.J. M.","family":"Gabree\u0308ls","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.M.","family":"Steijlen","sequence":"additional","affiliation":[{"name":"From the Department of Neurology (Dr. van Domburg)Laurentius Hospital, Roermond; the Department of Paediatric Neurology (Drs. Willemsen, Rotteveel, and Gabree\u0308ls), the Laboratory of Paediatrics and Neurology (Dr. de Jong), the Departments of Radiology (Drs. Thijssen and Heerschap), Ophthalmology (Dr. Cruysberg), and Dermatology (Dr. Steijlen), University Hospital Nijmegen St. Radboud; and the Department of Clinical Biochemistry (Dr. Wanders), Academic Medical Centre, Amsterdam, the Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","first-page":"1","volume":"32","year":"1957","unstructured":"Sj\u00f6gren T, Larsson T. Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand 1957;32 (suppl 113):1\u2013113.","journal-title":"Acta Psychiatr Neurol Scand"},{"key":"e_1_3_2_3_2","first-page":"519","volume":"37","year":"1982","unstructured":"Jagell S, Heijbel J. Sj\u00f6gren\u2013Larsson syndrome : physical and neurological features. A survey of 35 patients. Helv Paediatr Acta 1982;37:519\u2013530.","journal-title":"Helv Paediatr Acta"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00704.x"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050490"},{"key":"e_1_3_2_6_2","unstructured":"Richards  BW.  Sj\u00f6gren\u2013Larsson syndrome.   In:  Vinken  PJ Bruyn  GW eds. Handbook of clinical neurology.  Vol. 13. Amsterdam:North Holland Publishing 1972:468\u2013482."},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000246217"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1980.tb05730.x"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.71.3.224"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113379"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115478"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-4165(96)00126-2"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4547"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.4501"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-52"},{"key":"e_1_3_2_16_2","first-page":"210","volume":"12","year":"1993","unstructured":"Rizzo WB. Sj\u00f6gren\u2013Larsson syndrome. Semin Dermatol 1993;12:210\u2013218.","journal-title":"Semin Dermatol"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3016.1992.tb00776.x"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.166.1.3336675"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1978.00500310003001"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199001043220110"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(83)80322-3"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00372053"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)72401-8"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/97.1.693"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1990.01670350099017"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(96)90720-3"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(92)90010-V"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200417"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.3.212"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.37.12.1306"},{"key":"e_1_3_2_31_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00593725"},{"key":"e_1_3_2_32_2","first-page":"1561","volume":"18","year":"1997","unstructured":"Van Mieghem F, Van Goethem JWM, Parizel PM, et al. MR of the brain in Sj\u00f6gren\u2013Larsson syndrome. AJNR Am J Neuroradiol 1997;18:1561\u20131563.","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071532"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00192-6"},{"key":"e_1_3_2_35_2","first-page":"541","volume":"79","year":"1996","unstructured":"Phanthumchinda K, Srimanuthipol K, Yodnophaklao P. Sj\u00f6gren\u2013Larsson syndrome. J Med Assoc Thai 1996;79:541\u2013544.","journal-title":"J Med Assoc Thai"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01578262"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.189.2.8210375"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/117.1.49"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199205000-00001"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.38.23532"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81369-1"}],"container-title":["Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.neurology.org\/doi\/pdfdirect\/10.1212\/WNL.52.7.1345","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T15:27:49Z","timestamp":1711553269000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.neurology.org\/doi\/10.1212\/WNL.52.7.1345"}},"subtitle":["Clinical and MRI\/MRS findings in FALDH-deficient patients"],"short-title":[],"issued":{"date-parts":[[1999,4]]},"references-count":40,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1999,4]]}},"alternative-id":["10.1212\/WNL.52.7.1345"],"URL":"https:\/\/doi.org\/10.1212\/wnl.52.7.1345","relation":{},"ISSN":["0028-3878","1526-632X"],"issn-type":[{"value":"0028-3878","type":"print"},{"value":"1526-632X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,4]]}}}