Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis.

Bikrant Bihari LalSeema AlamAnupam SibalKarunesh KumarSomashekara Hosaagrahara RamakrishnaVaibhav ShahNirmala DheivamaniAshish BavdekarAabha NagralNishant WadhwaArjun MariaAashay ShahIra ShahZahabiya NalwallaPandey SnehavardhanK P SrikanthSubhash GuptaViswanathan M SivaramakrishnanYogesh WaikarArya SuchismitaA AshrithaVikrant SoodRajeev Khannanull null

Published in: Hepatology (Baltimore, Md.) (2024)

Patients with the TJP2-C genotype carrying PPTMs in both alleles had a rapidly progressive course, leading to early decompensation and death if they did not receive timely liver transplantation.

Keyphrases

multiple sclerosis
young adults
blood brain barrier
drug induced
protein protein
amino acid
replacement therapy