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M- Med-Fort - Stoffwechsel > CrigIer-Najjar-Syndrom > Flashcards

CrigIer-Najjar-Syndrom Flashcards

1
Q

Typ l:

A
  • Fehlen der UDP-Glukuronyltransferase
  • Autosomal-rezessiv
  • Ohne Lebertransplantation letal
  • UDP =Uridin-5’-diphospho-glucuronosyltransferase
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2
Q

Typ Il:

A
  • Stark verinderte Expression der UDPGT
  • Autosomal-rezessiv
  • Keine Therapie notwendig
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M- Med-Fort - Stoffwechsel (22 decks)

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