Ophthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
نویسندگان
چکیده
Mucolipidosis III (Pseudo-Hurler Polydystrophy) is a rare autosomal recessively inherited Hurler-like disease. The ophthalmological findings in these patients include a triad of mild retinopathy, corneal clouding and hyperopic astigmatism. We present a patient with these ophthalmological characteristics.
منابع مشابه
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Newly synthesized acid hydrolases, destined for transport to lysosomes, acquire a phosphomannosyl targeting signal by the transfer of N-acetylglucosamine 1-phosphate from uridine 5'-diphosphate (UDP)-N-acetylglucosamine to a mannose residue of the acid hydrolase followed by removal of the outer, phosphodiester-linked N-acetylglucosamine to expose 6-phosphomannose. This study demonstrates that f...
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ورودعنوان ژورنال:
- Bulletin de la Societe belge d'ophtalmologie
دوره 286 شماره
صفحات -
تاریخ انتشار 2002