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.
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
7 ensaios clínicos encontrados, 4 ativos.
Unilateral Multicystic Dysplastic Kidney in a Fetus Associated With Parental Genetic and Environmental Risk Factors: A Case Report.
🥉 Relato de casoA founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study.
Albumin as a glycoprotein biomarker in congenital disorders of glycosylation.
PMM2-CDG and the Role of Liver Transplantation as a Long-Term Solution: A Case Report.
🥉 Relato de casoEstablishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis.