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...

Полное описание

Библиографические подробности

Главные авторы:	Laila Kazem, Wafaa Al-Qabandi, Buthaina Albash, Reem Elshafie, Miao He, Hind Alsharhan
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Elsevier 2025-12-01
Серии:	Molecular Genetics and Metabolism Reports
Предметы:	Acute liver failure Genetic testing Low-GGT cholestasis SCYL1 Glycosylation CALFAN
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2214426925000849
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!