Congenital bile acid synthesis defect type 1 (Q90071): Difference between revisions
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O defeito congênito na síntese do ácido biliar tipo 1 é a anomalia mais comum da síntese do ácido biliar, caracterizada por manifestações variáveis de doença hepática colestática progressiva e má absorção de gordura, a maioria dos pacientes apresentando características de colestase neonatal. | |||
| description / en | description / en | ||
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis. | |||
Revision as of 17:00, 15 August 2026
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis.
| Language | Label | Description | Also known as |
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| default for all languages | ID_352753987 |
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| English | Congenital bile acid synthesis defect type 1 |
Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterised by variable manifestations of progressive cholestatic liver disease, and fat malabsorption, most patients having features of neonatal cholestasis. |
