Descreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
111 ensaios clínicos encontrados, 39 ativos.
High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid-Resistant Nephrotic Syndrome: Predominance of INF2 and TRPC6 and Identification of a Novel Gene.
Incidence of adrenal crisis in children and young people receiving high dose glucocorticoids for nephrotic syndrome or juvenile idiopathic arthritis: a retrospective observational study.
Relationship between clinical and pathologic findings and the presence of genetic variants in patients with steroid-resistant nephrotic syndrome.
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.