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Concurrence of robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins

✍ 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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✦ 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.


πŸ“œ SIMILAR VOLUMES


GLUCURONIDATION OF DIFLUNISAL, (βˆ’)-MORPH
✍ FranΓ§oise M. Brunelle; Araz A. Raoof; Jean De Ville De Goyet; Roger K. Verbeeck πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 403 KB

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