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Mucolipidosis III (pseudo‐Hurler polydystrophy): Cytological and ultrastructural observations of cultured fibroblast cells
Author(s) -
Taylor H. A.,
Thomas G. H.,
Miller C. S.,
Kelly T. E.,
Siggers D.
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01165.x
Subject(s) - mucolipidosis , ultrastructure , electron microscope , fibroblast , cytoplasm , mucopolysaccharidosis i , biology , pathology , chemistry , cell culture , microbiology and biotechnology , medicine , genetics , biochemistry , disease , physics , enzyme replacement therapy , optics , enzyme
Cultured fibroblast cells from four patients with mucolipidosis III (pseudo‐Hurler polydystrophy) were examined by phase contrast, dark‐field and electron microscopy. Both phase and dark‐field microscopy revealed striking abnormalities in three of these patients which were indistinguishable from those seen in mucolipidosis II (I‐cell disease). While electron microscopy indicated that the structural alterations found in both mucolipidosis II and III may he due to an increased storage of material within the cytoplasm, clear differences in the ultrastructural morphology were detectable between the two disorders.