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Human Diseases (thesaurus)

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Preferred term

carnosinemia  

Definition

  • Carnosinemia, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase', a dipeptidase (a type of enzyme that splits dipeptides into their two amino acid constituents).Carnosine is a dipeptide composed of beta-alanine and histidine, and is found in skeletal muscle and cells of the nervous system. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-PQTWS21G-M

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