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The Mucolipidoses in Australia - The Role of Secondary Metabolic Bone Disease

MUCOLIPIDOSES. biochemically-related disorders of lysosomal enzyme processingcharacterised by facial appearance, psychomotor retardation, and severe skeletal abnormalitiesdeficiency of phosphorylating enzyme (uridine diphosphate N-acetyl-glucosamine:lysosomal enzyme precursor N-acetylglucosaminylp

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The Mucolipidoses in Australia - The Role of Secondary Metabolic Bone Disease

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    1. The Mucolipidoses in Australia - The Role of Secondary Metabolic Bone Disease Dr Grace David Professor David Sillence

    2. MUCOLIPIDOSES biochemically-related disorders of lysosomal enzyme processing characterised by facial appearance, psychomotor retardation, and severe skeletal abnormalities deficiency of phosphorylating enzyme (uridine diphosphate N-acetyl-glucosamine:lysosomal enzyme precursor N-acetylglucosaminylphosphotransferase)

    3. PATHOPHYSIOLOGY

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