Garner and Klintworth's Pathobiology of Ocular Disease Part B, Third Edition
Mucolipidoses
Publication
, Chapter
Koeberl, DD
January 1, 2007
First delineated by Spranger and Wiedemann (36) in 1970, the seven or eight entities originally described shared clinical and radiographical features of both the mucopolysaccharidoses (MPSs) (see Chapter 40) and the sphingolipidoses (see Chapter 41); hence, the name mucolipidosiswas proposed. Excessive storage of lipids as well as complex carbohydrates in many of the mucolipidoses finds its expression in profound ultrastructural changes at the cellular level in both neural and visceral tissues. In the eye, both cornea and neural retina are affected to varying degrees in all these disorders.
Duke Scholars
ISBN
9781420079760
Publication Date
January 1, 2007
Start / End Page
941 / 952
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Koeberl, D. D. (2007). Mucolipidoses. In Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition (pp. 941–952).
Koeberl, D. D. “Mucolipidoses.” In Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition, 941–52, 2007.
Koeberl DD. Mucolipidoses. In: Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition. 2007. p. 941–52.
Koeberl, D. D. “Mucolipidoses.” Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition, 2007, pp. 941–52.
Koeberl DD. Mucolipidoses. Garner and Klintworth’s Pathobiology of Ocular Disease Part B, Third Edition. 2007. p. 941–952.
ISBN
9781420079760
Publication Date
January 1, 2007
Start / End Page
941 / 952