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2 rezultati
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
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Defects in the assembly of dolichol-linked oligosaccharide or its transfer to proteins result in severe, multi-system human diseases called Type I congenital disorders of glycosylation. We have identified a novel CDG type, CDG-Ij, resulting from deficiency in UDP-GlcNAc: dolichol phosphate
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).
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OBJECTIVE
To describe and compare ocular findings in patients with Hermansky-Pudlak syndrome (HPS) type 1 and 3.
METHODS
This is a retrospective case series of 64 patients with HPS from 1999 to 2009 evaluated at an outpatient private ophthalmologic clinic. Patients underwent genetic analysis of
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