Methylmalonic aciduria - homocystinuria type cbl F (Q101516)
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cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_680621786 |
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| English | Methylmalonic aciduria - homocystinuria type cbl F |
cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. |
Statements
CID11:ID_680621786
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dki-india-ID_680621786
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Concluído
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