Mucopolysaccharidosis II (Hunter disease) with corneal opacities
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 129 (1) , 11-16
- https://doi.org/10.1007/bf00441369
Abstract
Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.Keywords
This publication has 9 references indexed in Scilit:
- Hurler's Syndromes Without α-L-Iduronidase DeficiencyPublished by American Academy of Pediatrics (AAP) ,1977
- Mild and severe Hunter syndrome (MPS II) within the same sibshipsClinical Genetics, 1977
- HURLER'S SYNDROME WITH CLEAR CORNEASThe Lancet, 1974
- α-l-Iduronidase activity in cultured skin fibroblasts and amniotic fluid cellsArchives of Biochemistry and Biophysics, 1973
- The Defect in the Hunter Syndrome: Deficiency of Sulfoiduronate SulfataseProceedings of the National Academy of Sciences, 1973
- Corneal clouding in the genetic mucopolysaccharidoses: A cell culture studyClinical Genetics, 1973
- The Hunter Corrective FactorPublished by Elsevier ,1972
- [121] Corrective factors for inborn errors of mucopolysaccharide metabolismPublished by Elsevier ,1972
- THE DEFECT IN HURLER AND HUNTER SYNDROMES, II. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATIONProceedings of the National Academy of Sciences, 1969