{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T09:21:06Z","timestamp":1759483266999},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7403,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1984,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X\u2010linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane\u2010bound, electron\u2010lucent vacuoles and some electron\u2010dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low\u2010sulfated chondroitin\u20104\u2010sulfate; chondroitin\u20106\u2010sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.<\/jats:p>","DOI":"10.1002\/ana.410160109","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:10:45Z","timestamp":1104599445000},"page":"40-49","source":"Crossref","is-referenced-by-count":11,"title":["Ultrastructural, neurological, and glycosaminoglycan abnormalities in Lowe's syndrome"],"prefix":"10.1002","volume":"16","author":[{"given":"Krystyna E.","family":"Wisniewski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fred J.","family":"Kieras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph H.","family":"French","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr","given":"George 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