mucolipidoses/jimsonweed

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Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease.

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BACKGROUND In cultured fibroblasts from I-cell disease patients the transport of many lysosomal enzymes is defective, and affected cells contain inclusion bodies filled with undegraded substrates. However, the contents of these inclusion bodies have not been well characterized yet. We attempted to

Mucolipidosis IV: morphology and histochemistry of an autopsy case.

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Mucolipidosis Type IV is a rare, autosomal recessive disorder characterized by corneal opacification, mental retardation, and delayed motor milestones. Whereas lysosomal storage material has been demonstrated in biopsied tissues and leukocytes, the complete autopsy pathology, including

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