Assistente RarasDescreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
A miopatia miotónica proximal é uma doença multissistémica caracterizada pela associação de fraqueza muscular proximal com miotonia, manifestações cardíacas e cataratas.
Nenhum ensaio clínico registrado para esta condição.
In vitro characterization of osteoblasts from craniofacial fibrous dysplasia of bone and their impact on bone homeostasis.
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.
"Because it is a rare disease…it needs to be brought to attention that there are things out of the norm": a qualitative study of patient and physician experiences of Wilson disease diagnosis and management in the US.
A diagnostic support system based on pain drawings: binary and k-disease classification of EDS, GBS, FSHD, PROMM, and a control group with Pain2D.
Lifecycle management of orphan drugs approved in Japan.