Serum prealbumin and retinol binding protein (RBP) concentrations were determined for 68 members of a kindred in Indiana with a familial type of systemic amyloidosis.
It is concluded that the family studied in this paper shows familial alteration in the fibrinolytic system due to an excess of plasminogen activator immunologically related to that in human tissue.
Calf muscle haemodynamics and the renin-angiotensin-aldosterone system in normotensive subjects with a familial predisposition to hypertension: changes during increased salt intake.
Amyloid fibrils in familial amyloid polyneuropathy, the familial (AF) form of systemic amyloidosis, are composed of the monomeric unit (14,000 MW) of prealbumin molecules.
A transthyretin variant with a methionine for valine substitution at position 30 [TTR(Met30)] is found in Portuguese patients with familial amyloidotic polyneuropathy (FAP).
Immunoreactive and catalytic uroporphyrinogen decarboxylase were measured in liver from 15 patients with sporadic porphyria cutanea tarda (PCT) and 4 patients with familial PCT at different stages of the disorder.
Serum lipoprotein pattern, apoproteins and two postheparin triglyceride lipases were analyzed in a patient with familiallipoprotein lipase (LPL) deficiency and her family.
This is the second documentation of gynecomastia that is associated with increased extraglandular aromatase activity, and the first time that the defect was found to be familial with a probable X-linked (or autosomal dominant, sex limited) mode of inheritance.
Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by Southern blot procedures: study of six pedigrees in the Arao district of Japan.
Fibroblast studies demonstrated that the familial hypercholesterolemic subjects studied were LDL receptor-negative (less than 1% normal receptor activity) and LDL receptor-defective (18% normal receptor activity).
A plasma prealbumin variant with a methionine-for-valine substitution at position 30 is closely associated with familial amyloidotic polyneuropathy (FAP) type I.