Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic trmu variants author

HIGHLIGHTS

  • who: Acute liver failure and collaborators from the (UNIVERSITY) have published the Article: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Author, in the Journal: (JOURNAL) of 27/09/2022
  • what: The study aimed to define the genotypic and phenotypic spectrum of reversible (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of supplementation in its treatment.
  • how: For phenotyping the following variables were analyzed within this study individual`s genetic ancestry sex age at last assessment and clinical status. Regarding standards of . . .

     

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