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PEROXISOMALA SJUKDOMAR - BLF

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Klassiskt Zellweger syndrom (2:3)<br />

CT:<br />

hydrocephalus, hydrocephalus,<br />

CCAG, pachygyri<br />

förkalkningar runt leder<br />

Leverbiopsi:<br />

”jättecellshepatit”, inga peroxisomer<br />

Biokemi:<br />

s-VLCFA VLCFA C26:0/C22:0 = 0.217 (

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