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Diseases
Elejalde disease
dominant intermediate Charcot-Marie-Tooth
Charcot-Marie-Tooth disease type 4B1
generalized eruptive histiocytoma
Metabolic pathway
plasmalogens
xanthinuria type 2
xanthinuria type 1
biliary acide metabolism
Pediatric pathology
benign recurrent intrahepatic cholestasis
progressive familial intrahepatic cholestasis type 2
progressive familial intrahepatic cholestasis type 3
Byler disease
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progressive familial intrahepatic cholestasis type 3
PFIC-3
Etiology:
Mutations in the canalicular phospholipid transporter ABCB4 (7q21)
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