Carnosinemia

Known as: Carnosinase Deficiency

A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with…

National Institutes of Health

Papers overview

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2007

Recently, we demonstrated that a polymorphism in exon 2 of the serum carnosinase (CNDP1) gene is associated with susceptibility…

1981

1980

1967