Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment

BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic disorder, affecting the metabolism of branched chain amino-acids (Valine, Leukine, Isoleukine). We present a rare case of rhegmatogenous retinal detachment (RRD) in a MSUD patient. CASE PRESENTATION: We performed amino acid analysis of...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Ophthalmol
Main Authors: Kanakis, Menelaos G., Michelakakis, Helen, Petrou, Petros, Koutsandrea, Chrysanthi, Georgalas, Ilias
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5048685/
https://ncbi.nlm.nih.gov/pubmed/27716111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-016-0349-3
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