Concurrence of robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins
β Scribed by Nazer, Hisham ;Gunasekaran, Thirumazhisai S. ;Sakati, Nadia A. ;Nyhan, William L.
- Book ID
- 101442278
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 384 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
Robinow syndrome and Crigler
-Najar syndrome were encountered in 2 Saudi offspring of first cousins. Both died at age 4 months. The parents lost 2 previous children at age 2 months with progressive jaundice but without fetal facial characteristics.
π SIMILAR VOLUMES
In vitro glucuronidation was studied in liver microsomes from two patients with Crigler-Najjar type I (CN-I) disease and compared with the activity measured in microsomes prepared from six control human livers. The UDP-glucuronosyltransferase (UGT) activity was determined toward the following substr