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Published in 2017 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-017-3020-y
Abstract: AbstractNiemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the newborn period between…
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Keywords:
npc;
period;
newborn period;
pick disease ... See more keywords