We have an unusual patient with severe Vitamin A and Vitamin E deficiency.
We are trying to make contact with a laboratory (? Someone in Edinburgh) who
has experience with identifying genetic defects in relation to familial
(heterozygous) hypobetalipoproteinaemia/apoB phenotyping. Is anyone working
in the field or know someone who does.
Helen Grimes,
Department of Clinical Biochemistry,
University College Hospital,
Galway,
Ireland,
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