SCYL1 deficiency and intrafamilial variability: Two cases from Kuwait
Introduction: Biallelic pathogenic variants in SCYL1 have been reported in 22 individuals to date. Also referred to as CALFAN syndrome (cholestasis, acute liver failure, and neurodegeneration), this condition is characterized by recurrent episodic acute liver failure (ALF) with low-GGT cholestasis a...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Elsevier
2025-12-01
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| Schriftenreihe: | Molecular Genetics and Metabolism Reports |
| Schlagworte: | |
| Online-Zugang: | http://www.sciencedirect.com/science/article/pii/S2214426925000849 |
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