{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T10:12:31Z","timestamp":1761559951948},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1991,7,1]],"date-time":"1991-07-01T00:00:00Z","timestamp":678326400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1991,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Liver biopsy samples were obtained from eight Crigler\u2010Najjar patients. Bilirubin UDPGT activity, assayed by a microassay with HPLC analysis, was not detectable in type I livers, and low levels (9\u201326% of controls) of monoglucuronide conjugates only were observed in type II livers. 1\u2010Naphthol UDPGT activity was normal in most patients, where membrane integrity was maintained by correct sample procurement and preparation. Our data on type II livers suggest that a defect in UDPGA transport is an unlikely cause of the hyperbilirubinaemia, but reduced affinity for UDPGA was observed in one sample. Analysis of four patient liver samples by immunoblot analysis revealed the heterogeneous nature of this inherited disease within the patient population, and one sample where 1\u2010naphthol UDPGT activity was considerably reduced appeared to correlate with the non\u2010detection of a phenol UDPGT protein. Progress towards a molecular genetic diagnosis of Crigler\u2010Najjar syndromes is discussed.<\/jats:p>","DOI":"10.1007\/bf01797927","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T04:48:31Z","timestamp":1119329311000},"page":"563-579","source":"Crossref","is-referenced-by-count":15,"title":["Investigation of the molecular basis of the genetic deficiency of UDP\u2010glucuronosyl\u2010transferase in Crigler\u2010Najjar syndrome"],"prefix":"10.1002","volume":"14","author":[{"given":"K. 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