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Table 2 VLCFA concentration of the proband of the Perrault syndrome pedigree

From: A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome

VLCFA

Units

The proband (IV2)

Reference range

C22:0

nmol/ml

47.6

≤96.3

C24:0

nmol/ml

22.1

≤91.4

C26:0

nmol/ml

<0.40

≤1.30

C24:C22

 

0.47

≤1.39

C26:C22

 

<0.008

≤0.023

  1. Abbreviations: VLCFA very long chain fatty acids