نتایج جستجو برای: abetalipoproteinemia
تعداد نتایج: 433 فیلتر نتایج به سال:
BACKGROUND Abetalipoproteinemia (ABL) is a metabolic disorder resulting in poor absorption of fat-soluble vitamins. CASE Two pregnancies in a woman with ABL are reported, contrasting outcomes with subtherapeutic and normal vitamin levels. CONCLUSION Fat-soluble vitamin levels in pregnancy are critical for many aspects of fetal development. This report details a congenital ophthalmologic fin...
We describe here two patients, M. P. and S. L., with recessive abetalipoproteinemia. Analysis of restriction fragments of DNA from both patients using cDNA probes spanning the entire apolipoprotein B gene revealed no major insertions or deletions. Further, as defined by restriction fragment length polymorphism, abetalipoproteinemia, in these patients, did not appear associated with particular a...
Abetalipoproteinemia is a rare autosoma1 recessive disorder characterized by the absence of apolipoprotein B.' It is caused by mutations of the microsomal triglyceridetransfer protein gene.' Ocular manifestations include retinitis pigmentosa-like changes, nystagmus, ophthalmoplegia, ptosis, cataracts, anisocoria, and angioid ~treaks.~ Helicoid peripapillary chorioretinal degeneration (HPCD) is ...
Two patients with abetalipoproteinemia are shown to develop a serum vitamin A deficiency when maintained on a normal diet. This deficiency leads to a severe impairment of vision, including abnormalities of dark adaptation and the electroretinogram which involve both rod and cone receptor systems. Massive oral doses of vitamin A can reverse these abnormalities. Cone function recovers more rapidl...
In human serum, polymorphism of apoA-II predominantly in HDL3 could be demonstrated. HDL3-apoA-II was composed of four isoproteins, each with a molecular weight of 8600 (reduced form) and identical immunological properties. The isoproteins are designated apoA-II-1 (pI 5.16), apoA-II-2 (pI 4.89) corresponding to the already known apoA-II monomer band, apoA-II-3 (pI 4.58), and apoA-II-4 (pI 4.31)...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید