CMP-sialic acid transporter deficiency (Q90008)
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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. |
Statements
CID11:ID_480474610
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dki-india-ID_480474610
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Concluído
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13 August 2026
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