CMP-sialic acid transporter deficiency (Q90008)
From determinar.ia.br - Determine suas informações
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_480474610 |
||
| English | CMP-sialic acid transporter deficiency |
Congenital disorder of glycosylation type IIf (CDG-IIf) is an extremely rare form of CDG syndrome characterised clinically in the single reported case by repeated haemorrhagic incidents, including severe pulmonary haemorrhage. |
