(Q5201186)
English
cystathioninuria
amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
- cystathione gamma-lyase deficiency syndrome
- gamma-cystathionase deficiency
- cystathionase deficiency
- CYSTATHIONINURIA
Statements
1 reference
2 references
1 reference
4 references
C129070
1 reference
1 reference
1 reference
Identifiers
1 reference
1 reference
1 reference
2 references
2 references
1 reference
1 reference
1 reference
1 reference
1 reference
1 reference
2 references
Sitelinks
Wikipedia(3 entries)
- dewiki Cystathioninurie
- enwiki Cystathioninuria
- frwiki Cystathioninurie