Disease or Syndrome
carnosinemia
Definitions related to carnosinemia:
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A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures.NCI ThesaurusU.S. National Cancer Institute, 2021
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(carnosinase deficiency) Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.OrphaNetINSERM, 2021
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Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency.National Center for Advancing Translational Sciences
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