od strane Radmin | мар 31, 2023 | Bolesti
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od strane Radmin | мар 31, 2023 | Bolesti
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
od strane Radmin | мар 31, 2023 | Bolesti
Somatostatinoma (SSoma) is an extremely rare pancreatic neuroendocrine tumor or duodenal endocrine tumor (see these terms) that originates either in the pancreas (50%) or the gastrointestinal tract (50%) and mainly presents with non-specific symptoms of abdominal...
od strane Radmin | мар 31, 2023 | Bolesti
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od strane Radmin | мар 31, 2023 | Bolesti
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in...
