Archives: Conditions A-Z
Achondroplasia
An FGFR3-driven skeletal dysplasia; a targeted growth therapy is now approved alongside multidisciplinary care.
ავტორი:
Ataxia-telangiectasia
DNA-repair disorder with progressive ataxia, oculocutaneous telangiectasia, immunodeficiency and cancer risk.
ავტორი:
Chronic granulomatous disease
Phagocyte oxidative-burst defect with recurrent catalase-positive infections and granulomas.
ავტორი:
Atypical hemolytic uremic syndrome
A complement-mediated thrombotic microangiopathy; terminal complement inhibition is the mainstay of treatment.
ავტორი:
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