Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

Boudour Khabou,Bahri Mahjoub,Véronique Barbu, Nassima Balhoudi, Amina Wardani, Mohamed Taher Sfar,Faiza Fakhfakh

Clinica Chimica Acta（2018）

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摘要

•Identification of putative genetic modifiers in both ABCB11 and ABCG8 in the physiopathology of the PFIC3.•First description of phenotypic variability among PFIC3 patients with similar genetic background.•Revelation of new parameters influencing the response of PFIC3 patients to the UDCA treatment

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关键词

PFIC3,Complex genotype,Phenotypic variability,UDCA therapy,Biochemical,Follow-up

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