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It is suggested that this family have a specific form of neuronal ceroid lipofuscinosis with arthropathy and that accumulation of metabolites in this storage disease may be age dependent.<\/jats:p>","DOI":"10.1136\/jmg.18.2.101","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"101-104","source":"Crossref","is-referenced-by-count":9,"title":["Neuronal ceroid lipofuscinosis and arthropathy: a family study."],"prefix":"10.1136","volume":"18","author":[{"given":"R","family":"Proops","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S H","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,4,1]]},"reference":[{"issue":"44","key":"ref_1","first-page":"570","article-title":"Neuronal ceroid lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy","volume":"1969","author":"Zeman, W.; Dyken, P.","unstructured":"Zeman W, Dyken P. Neuronal ceroid lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy. Pediatrics 1969;44:570-83.","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/BF00687063","article-title":"Fine structure of the lipid bodies in juvenile amaurotic idiocy","volume":"3","author":"Zeman, W.; Donahue, S.","year":"1963","unstructured":"Zeman W, Donahue S. Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta Neutropatlhol 1963;3: 144-9.","journal-title":"Acta Neutropatlhol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1093\/brain\/100.1.137","article-title":"The ultrastructural characteristics of the abnormal cytosomes in Batten-Kuf's disease","volume":"100","author":"Carpenter, S.; Karpati, G.; Andermann, F.; Jacob, J.C.; Andermann, E.","year":"1977","unstructured":"Carpenter S, Karpati G, Andermann F, Jacob JC, Andermann E. The ultrastructural characteristics of the abnormal cytosomes in Batten-Kuf's disease. Brain 1977;100:137-56.","journal-title":"Brain"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1136\/adc.50.10.753","article-title":"Reassessment of rectal approach to neuronathology in childhood","volume":"50","author":"Brett, E.M.; Lake, B.D.","year":"1975","unstructured":"Brett EM, Lake BD. Reassessment of rectal approach to neuronathology in childhood. Arch Dis Child 1975;50: 753-62.","journal-title":"Arch Dis Child"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1001\/archneur.1977.00500130059012","article-title":"Skin punch biopsy in the diagnosis of juvenile neuronal ceroid lipofuscinosis","volume":"34","author":"Farrell, D.F.; Sumi, S.M.","year":"1977","unstructured":"Farrell DF, Sumi SM. Skin punch biopsy in the diagnosis of juvenile neuronal ceroid lipofuscinosis. Arch Neurol 1977;34:39-44.","journal-title":"Arch Neurol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/00005072-196807000-00002","article-title":"A second type of late infantile amaurotic idiocy with multilamellar cytosomes","volume":"27","author":"Gonatas, N.D.; Gambetti, P.; Baird, H.","year":"1968","unstructured":"Gonatas ND, Gambetti P, Baird H. A second type of late infantile amaurotic idiocy with multilamellar cytosomes. J Neuropathol Exp Neurol 1968;27:371-89.","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/S0022-3476(69)80302-1","article-title":"Cytoplasmic inclusions in juvenile amaurotic idiocy","volume":"75","author":"Gonatas, N.K.; Gambetti, P.; Tucker, S.H.; Evangelista, I.; Baird, H.","year":"1969","unstructured":"Gonatas NK, Gambetti P, Tucker SH, Evangelista I, Baird H. Cytoplasmic inclusions in juvenile amaurotic idiocy. J Pediatr 1969;75:796-805.","journal-title":"J Pediatr"},{"key":"ref_8","first-page":"144","volume":"30","author":"Armstrong, D.; Dimmit, S.; Van Wormer, D.E.","year":"1974","unstructured":"Armstrong D, Dimmit S, Van Wormer DE. Studies in Batten's disease. I. Peroxidase deficiency in granulocytes. Arch Neurol 1974;30:144-52.","journal-title":"Studies in Batten's disease. I. Peroxidase deficiency in granulocytes. Arch Neurol"},{"key":"ref_9","first-page":"\"1360","article-title":"Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten's disease","volume":"40","author":"Wolfs, L.N.; Yingkin, N.M.K.; Baker, R.R.; Carpenter, S.; Andermann, F.","year":"1977","unstructured":"Wolfs LN, Yingkin NMK, Baker RR, Carpenter S, Andermann F. Identification of retinoyl complexes as the autofluorescent component of the neuronal storage material in Batten's disease. Science 1977;195:1360-2. '\u00b0 Pampiglione G, Harden A. So-called neuronal ceroid lipofuscinosis. Neurophysiological studies in 60 children J Neurol Neurosurg Psychiatry 1977;40:322-30.","journal-title":"Science; Pampiglione G, Harden A. So-called neuronal ceroid lipofuscinosis"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.18.2.101","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:43:34Z","timestamp":1760733814000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.18.2.101"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,4]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1981,4,1]]},"published-print":{"date-parts":[[1981,4]]}},"alternative-id":["10.1136\/jmg.18.2.101"],"URL":"https:\/\/doi.org\/10.1136\/jmg.18.2.101","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1981,4]]}}}