Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt

Niemann-Pick type C (NPC) is an autosomal recessive condition which is caused by bi-allelic variants in either NPC1 (95% of patients) or NPC2 (5%). It manifests with mainly neurological symptoms. Sphingomyelin Lyso-SM-509 has recently been proposed as a potential NPC biomarker.

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