Massimo Gulisano

Clinical, biochemical and genetic spectra of carnosinemia: a systematic review of case reports and case series

Carnosinemia, also referred to as carnosinase 1 (CNDP1) deficiency, is an ultra-rare inborn error of metabolism characterized by impaired CNDP1 activity and carnosine degradation. The clinical significance and phenotypic spectrum of this condition remain poorly defined, with highly heterogeneous neurological and deve...