{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T10:17:03Z","timestamp":1752229023868},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5879,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a child with enzymatically and histopathologically proven metachromatic leukodystrophy (MLD), the disease pursued a course typical of juvenile MLD characterized by neurological degeneration beginning at age 9 years and ending in death at age 18. A younger brother of the patient was found to have profound deficiency of arylsulfatase A in leukocytes and to excrete five\u2010 to 20\u2010fold greater than\u2010normal amounts of sulfatide in the urine. He was completely free of symptoms attributable to MLD until age 16 when he developed acute cholecystitis caused by sulfatide accumulation in the gallbladder. Results of detailed neurological examination at age 21 years were normal; formal psychometric assessment showed a full\u2010scale IQ of 105 (Wechsler). Studies on cultured skin fibroblasts from the brother showed defects in arylsulfatase A activity, measured with the use of synthetic and natural substrates, and in radiolabeled sulfatide turnover. Cellulose acetate gel electrophoresis of fibroblast extracts from the patient showed no detectable arylsulfatase A isozyme under conditions that clearly distinguished pseudo\u2010arylsulfatase A deficiency from classical MLD. Biochemically, the patient was indistinguishable from patients with classical MLD; on the other hand, his clinical course is dramatically more benign than that of his sister who was affected with severe MLD.<\/jats:p>","DOI":"10.1002\/ajmg.1320330104","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:59:47Z","timestamp":1118545187000},"page":"10-13","source":"Crossref","is-referenced-by-count":30,"title":["Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy"],"prefix":"10.1002","volume":"33","author":[{"given":"J. T. R.","family":"Clarke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Skomorowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. L.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(87)81204-8"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1966.00470090031004"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02772.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(59)90119-6"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02133.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1203\/00006450-198410000-00027","article-title":"Diagnosis of pseudo\u2010arylsulfatase A deficiency with electrophoretic techniques","volume":"18","author":"Chang PL","year":"1984","journal-title":"Pediatr Res"},{"key":"e_1_2_1_8_1","first-page":"191","article-title":"Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family","volume":"29","author":"Dubois G","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00394192"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01625956"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198309000-00001"},{"key":"e_1_2_1_12_1","first-page":"171","article-title":"Genetic heterogeneity in metachromatic leukodystrophy","volume":"34","author":"Kihara H","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"576","article-title":"Genetic heterogeneity in arylsulfatase A (ASA) deficiency","volume":"29","author":"Kolodny EH","year":"1979","journal-title":"Neurology"},{"key":"e_1_2_1_14_1","first-page":"704","article-title":"Metabolism of fatty acid labelled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients","volume":"98","author":"Kudoh T","year":"1981","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI110607"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80546-X"},{"key":"e_1_2_1_17_1","first-page":"310","article-title":"Electrophoresis of arylsulfatase from normal individuals and patients with metachromatic leukodystrophy","volume":"25","author":"Rattazzi MC","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(85)80088-6"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320330104","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320330104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T11:23:10Z","timestamp":1697973790000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320330104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,5]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1989,5]]}},"alternative-id":["10.1002\/ajmg.1320330104"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320330104","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,5]]}}}