Hurler's disease.
| dc.contributor.author | Bhaduri, Gautam | en_US |
| dc.contributor.author | Chatterjee, Soumya | en_US |
| dc.contributor.author | Sarkar, Ajay De | en_US |
| dc.contributor.author | Mukherjee, Shyama Prosad | en_US |
| dc.contributor.author | Todani, Amit | en_US |
| dc.date.accessioned | 2005-07-22 | en_US |
| dc.date.accessioned | 2009-05-31T15:32:21Z | |
| dc.date.available | 2005-07-22 | en_US |
| dc.date.available | 2009-05-31T15:32:21Z | |
| dc.date.issued | 2005-07-22 | en_US |
| dc.description.abstract | Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management. | en_US |
| dc.description.affiliation | Regional Institute of Ophthalmology, Kolkata. | en_US |
| dc.identifier.citation | Bhaduri G, Chatterjee S, Sarkar AD, Mukherjee SP, Todani A. Hurler's disease. Journal of the Indian Medical Association. 2005 Jul; 103(7): 385-6, 398 | en_US |
| dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/103583 | |
| dc.language.iso | eng | en_US |
| dc.source.uri | https://www.jimaonline.org.in/ | en_US |
| dc.subject.mesh | Child | en_US |
| dc.subject.mesh | Diagnosis, Differential | en_US |
| dc.subject.mesh | Female | en_US |
| dc.subject.mesh | Humans | en_US |
| dc.subject.mesh | Keratoplasty, Penetrating | en_US |
| dc.subject.mesh | Male | en_US |
| dc.subject.mesh | Mucopolysaccharidosis I --diagnosis | en_US |
| dc.title | Hurler's disease. | en_US |
| dc.type | Case Reports | en_US |
| dc.type | Journal Article | en_US |
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