نتایج جستجو برای: autosomal recessive trait
تعداد نتایج: 117581 فیلتر نتایج به سال:
A 58 year old patient with dementia, oral dyskinesia, and diabetes mellitus is described. He had an undetectable concentration of serum caeruloplasmin, as an autosomal recessive trait. Brain MRI disclosed a pronounced hypointensity in the bilateral putamina, caudate, and dentate nuclei on both T1 and T2 weighted images. Pathological findings were mainly in those regions of the brain and consist...
Galactosemia is a treatable metabolic disorder caused by the deficiency of enzyme galactose-1phosphate uridyl transferase (GALT) and inherited as an autosomal recessive trait. A case of neonate manifesting with recurrent Escherichia coli sepsis is presented here which turned out to be a classic galactosemia. No other common presenting features were observed in this infant except cataract on sli...
Background: The secretion of growth hormone (GH) is stimulated by sleep, high protein diet, exercise, and hypoglycemia, among some other causes. A potent stimulus for GH release is a peptide from the stomach wall, ghrelin. In young dogs, ghrelin is more potent in stimulating GH release than is GH releasing hormone. In humans, ghrelin also stimulates the secretion of prolactin, adrenocorticotrop...
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