نتایج جستجو برای: seip lypodystrophy
تعداد نتایج: 181 فیلتر نتایج به سال:
Seipinopathy is an autosomal dominant neurodegenerative disease caused by mutations of the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) gene. We report the first Japanese case of seipinopathy with a heterozygous mutation of p.N88S in the BSCL2 gene. The patient showed bilateral hyperreflexia of the biceps, triceps, brachioradialis, and knee, as well as the pes cavus and distal dominant ...
It is shown that the Geltman-Hartree model of multiple ionisation by intense laser pulses can reproduce well the experimental data for Xe of Rhodes and co-workers, provided the laser intensity spatial distribution is taken into account. Estimates for the ionisation probabilities of 5p and 5 s electrons are obtained. One of the most challenging current problems in multiphoton physics is the expl...
Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy
BACKGROUND Berardinelli-Seip congenital lipodystrophy (BSCL) was initially described by Berardinelli in Brazil in 1954 and 5 years later by Seip in Norway. It is an autosomal recessive disease that leads to a generalized deficit of body fat, evolving with diabetes and hypertriglyceridemia. The aim of this study was to describe the clinical and laboratory characteristics of a large series of pat...
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