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Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein
Retinol binding protein transthyretin retinol retinyl esters
2016/5/31
Two German sisters aged 14 and 17 y were admitted
to the Tübingen eye hospital with a history of night blindness.
In both siblings, plasma retinol binding protein (RBP) concentrations
were below th...
Mutations in the gene encoding retinol binding protein and retinol deficiency: is there compensation by retinyl esters and retinoic acid?
retinyl esters retinoic acid
2016/5/31
Biesalski et al (1) present a novel case of 2 sisters aged 14 and
17 y with very low plasma retinol concentrations (0.19 mmol/L)
and plasma concentrations of retinol binding protein (RBP) below
the...