نتایج جستجو برای: inborn
تعداد نتایج: 8667 فیلتر نتایج به سال:
BACKGROUND Potassium deficiency may cause cardiac arrhythmias culminating in syncope or sudden death. METHODS An inquiry performed among physicians caring for a total of 249 patients with inborn salt-losing tubulopathies revealed that acute cardiac complications occurred in seven children. RESULTS Four patients died suddenly and three had severe syncope. These episodes occurred in the conte...
Phenylketonuria (PKU) is one of the most common metabolic inborn diseases caused by mutations in the phenylalanine hydroxylase (PAH) gene. This gene is linked to a variable number of tandem repeats (VNTR) region which is a polymorphic marker that facilitates the implementation of prenatal diagnosis and carrier screening. In this study, VNTR with 13 repeats that has not been reported previously ...
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