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Details of RareLED ID 2001

Primary information
ID	2001
Disorder	Fabry's Disease
Inheritance	X-linked recessive
Organ Affected	Kidney, Heart,Eye,Skin,Muscle,Bones,Nervous System,Lungs
Onset	Adult
Genotype-Phenotype Correlation	Active -site mutations p.D93E/Y, p.D170N, p.R227Q and p.D231N cannot retain enzyme activity under treatment of chaperone DGJ , best responders to DGJ were p.A156V, p.I253S, p.R301Q
Refrences	23935525