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Search results for: alport syndrome
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Carbamazepine induced Stevens-Johnson syndrome: a case report
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Carbamazepine induced Stevens-Johnson syndrome: a case report
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DRESS SYNDROME AS SERIOUS SKIN HYPERSENSITIVITY REACTIONS ASSOCIATED WITH OLANZAPINE: CASE REPORT
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Cutaneous manifestations of autoimmune polyglandular syndrome type 1 – case report and literature review
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A tendency to worse course of multisystem inflammatory syndrome in children with obesity: MultiOrgan Inflammatory Syndromes COVID-19 related study
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Peripheral neuropathy and health-related quality of life in patients with primary Sjögren’s syndrome: a preliminary report
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Bisphenol A analogues and metabolic syndrome in women with polycystic ovary syndrome
PublicationBisphenols (BPs) have become a chemical group of special interest due to their ability to interfere with the endocrine system and their ubiquitous presence in the environment. As some of them possess mild estrogenic and anti-androgenic effects, they might be associated with the diagnosis of polycystic ovary syndrome (PCOS). Acting on multiple tissues, BPs exposure may lead to metabolic derangements characteristic for metabolic...
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Diabetology & Metabolic Syndrome
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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
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Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
PublicationA study of 269 children enrolled into a National Registry for children with persistent glomerular hematuria identified 131 individuals with genetically confirmed X-linked Alport Syndrome. A single variant c.1871G>A p.Gly624Asp (G624D) in COL4A5 was predominant and accounted for 39% of Xlinked Alport Syndrome in unrelated Polish families (44 of 113). To evaluate its origins, the genetic variation in a 2.79 Mb segment encompassing...