Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvemen...

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Main Authors: Y. Aelvoet, P. Verloo, A. Vanlander, S. Vande Velde, S. Van Biervliet, P. De Bruyne, L. Hoste, A. Dheedene, L. Pottie, A. Hoorens, M. Mendes, R. De Bruyne
Format: Article
Language:English
Published: Wiley 2025-05-01
Series:JIMD Reports
Subjects:
FARSA deficiency
idiopathic liver disease
neonatal cholestasis
neonatal liver failure
phenylalanyl‐tRNA
Rajab interstitial lung disease
Online Access:https://doi.org/10.1002/jmd2.70013
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https://doi.org/10.1002/jmd2.70013

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