LAUSR

Response to Spagnoli et al.

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1 Published in 2018 at "Genetics in Medicine"

DOI: 10.1038/s41436-018-0388-7

Abstract: To the Editor: With great interest we have read the correspondence from Spagnoli et al. to our publication on CALFAN (low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration) syndrome due to mutations in SCYL1. Spagnoli… read more here.

Keywords: phenotype; low glutamyl; transferase cholestasis; deficiency ... See more keywords