Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome.

"Declarations Ethics approval and consent to participateThe study was approved by the Ethics Committee of the Xinhua Hospital, Shanghai Jiao Tong University School of Medicine (XHEC-D-2022-271). Written informed consent was obtained from patients or their guardians. Consent for publicationInformed consent was obtained from all individual participants included in the study. Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

"Funding The authors have not received specific funding sources for this study. The study was partially supported by the National Key R&D Program of China (No. 2022YFC2703400), Shanghai Healthcare Commission Project (202340103, 202140103), Clinical Research Centre for Congenital Adrenal Insufficiency, Pediatrics College, Shanghai Jiao Tong University School of Medicine (ELYZX202106), and Clinical Innovation Project of Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University (23XHCR12B)."