Fumarase deficiency (Q93764): Difference between revisions
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A acidúria fumárica é um transtorno do ciclo do ácido tricarboxílico caracterizada por sinais clínicos de início precoce, mas inespecíficos: hipotonia, retardo psicomotor, convulsões, dificuldade respiratória, malformações cerebrais frequentes e polidrâmnio. | |||
| description / en | description / en | ||
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios. | |||
Revision as of 08:51, 16 August 2026
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_780506966 |
||
| English | Fumarase deficiency |
Fumaric aciduria is a tricarboxylic acid cycle disorder characterised by early onset but non-specific clinical signs: hypotonia, psychomotor retardation, convulsions, respiratory distress, frequent cerebral malformations and polyhydramnios. |
