{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T22:50:53Z","timestamp":1771627853744,"version":"3.50.1"},"reference-count":27,"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":9411,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The clinical and biochemical evaluation of 6 patients with trichopoliodystrophy indicates that the disease process can begin in utero and is related to a selective abnormality in copper metabolism. Examination of 2 infants on the first day of life revealed abnormal neurological signs, a characteristic hair abnormality, and elevated levels of copper and ceruloplasmin. Decreased hepatic copper levels and increased urinary copper excretion were documented during the first week. The 2 neonates demonstrated a progressive decrease in blood copper levels in the first month of life. Four infants identified at ages 2 to 11 months had low values for blood copper and ceruloplasmin. All infants had progressive neurological dysfunction, and 4 of the 6 died at ages ranging form 2 1\/2 months to 5 1\/2 years. Parenteral copper therapy achieved normal blood and hepatic copper levels in 1 patient, but the copper values in the cerebral cortex and white matter were significantly decreased compared to control specimens.<\/jats:p>","DOI":"10.1002\/ana.410050110","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:49:18Z","timestamp":1104598158000},"page":"65-71","source":"Crossref","is-referenced-by-count":44,"title":["Clinical and biochemical aspects of trichopoliodystrophy"],"prefix":"10.1002","volume":"5","author":[{"given":"Warren D.","family":"Grover","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Waine C.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert I.","family":"Henkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1948.tb04683.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1542\/peds.52.5.653","article-title":"Kinky hair syndrome: response to copper therapy","volume":"52","author":"Bucknall WE","year":"1973","journal-title":"Pediatrics"},{"key":"e_1_2_1_4_2","first-page":"188","article-title":"Menkes kinky hair syndrome: an inherited defect in copper absorption with widespread effects","volume":"50","author":"Danks DM","year":"1972","journal-title":"J Pediatr"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)91433-X"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90268-2"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1954.tb08199.x"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1972.00490090055004"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.73.2.604"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.42.1.253"},{"key":"e_1_2_1_11_2","first-page":"448","article-title":"Trichopoliodystrophy (TPD): a fetal disorder of copper (Cu) metabolism","volume":"10","author":"Grover WD","year":"1976","journal-title":"Pediatr Res"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80471-9"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1148\/124.2.459"},{"key":"e_1_2_1_14_2","first-page":"405","volume-title":"Trichopoliodystrophy (TPD): new aspects of pathology and treatment in trace element metabolism in man and animals III","author":"Henkin RI","year":"1978"},{"key":"e_1_2_1_15_2","first-page":"435A","article-title":"Trichopoliodystrophy (TPD): a genetic defect in selective Cu binding and storage as well as transport","volume":"24","author":"Henkin RI","year":"1976","journal-title":"Clin Res"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(71)90234-1"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80076-9"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(75)92214-X"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197501232920407"},{"key":"e_1_2_1_20_2","first-page":"764","article-title":"A sex\u2010linked recessive disorder with retardation, peculiar hair and focal cerebral and cerebellar degeneration","volume":"29","author":"Menkes JH","year":"1962","journal-title":"Pediatrics"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/17.5.369"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2795(68)90280-8"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(73)90766-6"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI103515"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9681(66)90033-6"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1973.04160040072015"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.48.12.958"},{"key":"e_1_2_1_28_2","unstructured":"ZelkowitzM CoteL MirandaA et al:Trichopoliodystrophy: ultrastructure and biochemical studies in muscle. 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