CMP-sialic acid transporter deficiency (Q90008): Difference between revisions
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Revision as of 16:56, 15 August 2026
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 |
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| 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. |
