Concept information
Preferred term
cystathioninuria
Definition(s)
- Cystathioninuria, also called cystathionase deficiency, is an autosomal recessive metabolic disorder. It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. (Wikipedia)
Broader concept(s)
In other languages
-
French
URI
http://data.loterre.fr/ark:/67375/VH8-DK45KW8T-C
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