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Acyl-CoA Acyl CoA oxidas + thiolas defekt<br />
Zellwegervariant (4:2)<br />
fenotyp : tunn ”fetal”, genomskinlig, finådrig hud<br />
tunt subcutant fettlager, hög panna<br />
ingen organförstoring<br />
hypotont syndrom<br />
CT / MR: ingen missbildning, normal myelinisering<br />
Lab: Lab VLCFA C26:0/C22:0 = 0.92<br />
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