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Lysosomal Storage Disorders

May 18, 2023

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Gaucher Disease

Clinical features of Gaucher disease

Diagnosis of Gaucher disease

Treatment of Gaucher disease

Diseases for which Enzyme Replacement therapy is available

Niemann Nick Disease                                               

GM1 Gangliosidosis

Tay Sach Disease

Mucopolysaccharidosis (MPS)                      

Clinical features of Hurler disease

Clinical features of other Mucopolysaccharidosis

Inheritance pattern

Fabry Diseases

Lesch Nyhan Syndrome

Clinical features



Menke Disease           

Clinical features

Wolman Disease 


Lysosomal Storage Disorders
Auther Details

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