Lucia Buccarello

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

Abstract 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,...