El síndrome LPAC (low-phospholipid-associated cholelithiasis syndrome) está asociado a mutaciones del gen ABCB4, que codifica la proteína MDR3, esencial en la secreción de fosfatidilcolina en las sales biliares. Este síndrome se caracteriza por una mayor prevalencia en mujeres, síntomas biliares en adultos jóvenes y excelente respuesta al ácido...
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February 7, 2022 (v1)PublicationUploaded on: March 25, 2023
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October 11, 2022 (v1)PublicationLiver injury in non-alcoholic fatty liver disease is associated with urea cycle enzyme dysregulation
The main aim was to evaluate changes in urea cycle enzymes in NAFLD patients and in two preclinical animal models mimicking this entity. Seventeen liver specimens from NAFLD patients were included for immunohistochemistry and gene expression analyses. Three-hundred-and-eighty-two biopsy-proven NAFLD patients were genotyped for rs1047891, a...
Uploaded on: March 24, 2023