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exotropia/tyrosine

Kiungo kimehifadhiwa kwenye clipboard
NakalaMajaribio ya klinikiHati miliki
2 matokeo
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).

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
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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