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Zellweger syndrom<br />
Multipla organsymptom<br />
CNS-ögon CNS gon-njurar njurar-genitalia genitalia-skelett skelett-hj hjärta rta-lever lever<br />
Lab<br />
VLCFA, fytansyra, fytansyra,<br />
pipekolsyra ⇑<br />
plasmalogener ⇓<br />
Patol kortikal dysplasi, dysplasi,<br />
heterotopi, heterotopi,<br />
dysmyelinisering<br />
EMKR<br />
peroxisomer saknas, px biogenesdefekt
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