Associated Papers
MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump.
Zhou Z et al.
Cells, 2026
41511375 (PubMed )
Supplement: cells-15-00092-s001.zip › cells-4027592-supplementary › PFIC10_supplemental_final_TableS1_R.xlsx › Sheet1
Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.
Roquelaure B et al.
Orphanet Journal of Rare Diseases, 2025
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 2022
35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D et al.
Journal of Clinical Medicine, 2021
MYO5B, STX3, and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
Dhekne HS et al.
Human Mutation, 2018
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Gonzales E et al.
Hepatology (baltimore, Md.), 2017
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