A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
Line ModinVicky NgPaul GissenJulian RaimanEva Doreen PfisterAnibh Martin DasRené SanterHanna FaghfourySaikat SantraUlrich BaumannPublished in: Children (Basel, Switzerland) (2021)
Early diagnosis of NPC continues to be a challenge and a definitive diagnosis is often made only after LTx. Neurological disease is not prevented in the majority of patients. Genotype does not appear to predict neurological outcome after LTx. LTx still remains controversial in NPC.