نتایج جستجو برای: abetalipoproteinemia

تعداد نتایج: 433  

Journal: :Journal of Evolution of Medical and Dental Sciences 2020

Journal: :The Journal of Japan Atherosclerosis Society 1984

Journal: :The Journal of clinical investigation 1964
E R SIMON P WAYS

Journal: :Blood 1991
W F Novotny S G Brown J P Miletich D J Rader G J Broze

Human plasma contains an inhibitor of tissue factor-initiated coagulation known as the lipoprotein-associated coagulation inhibitor (LACI) or also known as the extrinsic pathway inhibitor (EPI). A competitive fluorescent immunoassay was developed to measure the plasma concentration of LACI in samples from normal individuals and patients with a variety of diseases. The LACI concentration in an a...

2013
Mohamed Najah Sarraj Mohamed Youssef Hrira Mohamed Yahia Slimani Afef Jelassi Awatef Hammami Saber Najjar Mohamed Fadhel Agnès Sassolas Slimane Mohamed Naceur

BACKGROUND Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investi...

Journal: :Orphanet Journal of Rare Diseases 2008
Rola Zamel Razi Khan Rebecca L Pollex Robert A Hegele

Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large ...

Journal: :Nihon Hoshasen Gijutsu Gakkai zasshi 2014
Akio Hashimoto Hirosi Inatsu Susumu Ogashiawa Yukimitsu Teranishi Yoshifumi Hirota Masaru Tsuruoka Kei Nitami Yuuji Hayashi Masae Fujisawa

Orbitomeatal basal line-anthropological basal line (OML-ABL), and the acanthiomeatal line (AML)-ABL crossing angles were measured using profile pictures. There were 219 volunteers in total: 42 people four years old, 44 people nine years old, 45 people 14 years old, 43 people 19 years old, and 45 people 40 years or older (48±7.4 years). The average OML-ABL crossing angle was 14.3 degrees in the ...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید