+- USMLE Forum - Largest USMLE Community (https://www.usmleforum.com)
+-- Forum: USMLE Forum (https://www.usmleforum.com/forumdisplay.php?fid=1)
+--- Forum: Step 1 (https://www.usmleforum.com/forumdisplay.php?fid=2)
+--- Thread: biochem - cd45 (/showthread.php?tid=107969)
biochem - cd45 - ArchivalUser - 08-06-2006
Zellweger syndrome is characterized by presentation in the neonatal period with profound hypotonia, characteristic facies, seizures, inability to feed, liver cysts with hepatic dysfunction, and chondrodysplasia punctata. Infants with this condition are significantly impaired and usually die during the first year of life, usually having made no developmental progress. Death is usually secondary to progressive apnea or respiratory compromise from infection.
How can one diagnose zellwegers syndrome??
a. boichemical testing
b. FISH
c. ASO
d. spectral karyoptyping
e. northern blot
just put this is so you guys could rememer another syndrome.. not really as a question...
0 - ArchivalUser - 08-06-2006
d or e????
0 - ArchivalUser - 08-06-2006
A..
0 - ArchivalUser - 08-06-2006
sage u r soo good with biochem.... yeas u r right...
0 - ArchivalUser - 08-06-2006
cd45, thank you for posting the good Qs. You are beter than me.
what is another syndrome similar to this?
0 - ArchivalUser - 08-06-2006
Sorry for typo. I say " you are better than me".
I thank you again. because you also posted a lot of qs like uterus.
0 - ArchivalUser - 08-06-2006
infantile refsums and neonatal leukodystrophy.....