klassische Homocystinurie
HOMOCYSTINURIA DUE TO CBS DEFICIENCY
OMIM: 236200
Synonyme
- Cystathionin-beta-Synthase-Mangel
- Homocystinurie durch Cystathionin-beta-Synthase-Mangel
- HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
- CBS DEFICIENCY
- HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
Genorte
- CBS(OMIM 613381)