Sandbox/13: Difference between revisions

Latest revision as of 19:36, 23 October 2013

Skin biopsy

Filipin test

Highly positive

Moderately positive

Difficult interpretation

Clearly negative

Reassess clinical features

a priori, not NP-C

Kinetics of LDL-induced cholesteryl ester formation

NPC1 mutation p.P1007A and codon 992

Sequencing opf NPC1 and NPC2 gene

@@ Line 1: / Line 1: @@
-{{Family tree/start}}
+{{Family tree/start |summary=Diagnostic Algorithm for NP-C}}
 {{Family tree | | | | | | | | | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | | | | | | | | | | A01 = Skin biopsy}}
 {{Family tree | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | }}
 {{Family tree | | | | | | | | | | | | | | | | | | | | | |!| | | | | | | | | | | | | | | | | | | | | | | | | | | | }}