Abetalipoproteinemia

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

Also known as: Bassen-Kornzweig disease, abetalipoproteinemia, homozygous familial hypobetalipoproteinemia, ABL, Bassen Kornzweig syndrome, Bassen-Kornzweig syndrome, Betalipoprotein deficiency disease, MTP deficiency

36 clinical trials for this condition and its sub-types, 2 tagged with Abetalipoproteinemia itself.