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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Study of the bone pathology in early mucolipidosis II (I-cell disease).

Histological examination of the bones obtained on autopsy of a 5-month-old child with mucolipidosis II (I-cell disease) revealed inhibition of the growth plate calcification with defective vascular invasion and signs of hyperparathyroidism. These findings are the chondro-osseous basis of the early radiological ricket-like appearance of bones in the neonatal period or soon thereafter. Whether the early skeletal abnormalities of mucolipidosis II result from a primary enzymatic defect of cartilage and bone cells or from factors controlling bone metabolism deserves further study.[1]

References

  1. Study of the bone pathology in early mucolipidosis II (I-cell disease). Pazzaglia, U.E., Beluffi, G., Bianchi, E., Castello, A., Coci, A., Marchi, A. Eur. J. Pediatr. (1989) [Pubmed]
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