Gaucher’s Disease – Inborn Errors Of Metabolism – Biochemistry

Gaucher disease is due to deficiency of?
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Beta glucosidase

Gaucher’s disease?
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Autosomal recessive

Substance accumulated in Gaucher’s disease?
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Glucocerebroside

Accumulation in Gaucher’s disease?
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Cerebroside

MC site of Gaucher’s disease?
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Femoral head

Crumbled tissue paper appearance of cells is seen in?
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Glucocerebroside

Gaucher’s disease?
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Gaucher disease is associated with?
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Pseudoosteitis

Erlenmeyer flask deformity of femur?
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Gaucher’s disease

Double line sign?
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Gaucher’s disease
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