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Enzyme defects and the skeleton 

Enzyme defects and the skeleton
Enzyme defects and the skeleton

Roger Smith

and Paul Wordsworth

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date: 20 September 2020

Enzyme gene mutations which have a major effect on the skeleton are homocystinuria, hypophosphatemia, and alkaptonuria. Many other mutations include those of osteoclast acidification (osteopetrosis), collagen synthesis (OI), lα‎ hydroxylation of 25OHD (VDDR type 1), and mucopolysaccharide breakdown.

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