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Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia
Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia.
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362223/ https://www.ncbi.nlm.nih.gov/pubmed/22649348 http://dx.doi.org/10.1159/000338627 |
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author | Wang, Bob Z. Siriwardana, Pradeep Taranath, Deepa |
author_facet | Wang, Bob Z. Siriwardana, Pradeep Taranath, Deepa |
author_sort | Wang, Bob Z. |
collection | PubMed |
description | Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia. |
format | Online Article Text |
id | pubmed-3362223 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-33622232012-05-30 Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia Wang, Bob Z. Siriwardana, Pradeep Taranath, Deepa Case Rep Ophthalmol Published online: April, 2012 Congenital disorders of glycosylation are a rare group of metabolic disorders that can result in multiorgan disease. This article describes a novel finding of macular hypoplasia in congenital disorders of glycosylation type Ia. S. Karger AG 2012-04-30 /pmc/articles/PMC3362223/ /pubmed/22649348 http://dx.doi.org/10.1159/000338627 Text en Copyright © 2012 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License (http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions. |
spellingShingle | Published online: April, 2012 Wang, Bob Z. Siriwardana, Pradeep Taranath, Deepa Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia |
title | Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia |
title_full | Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia |
title_fullStr | Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia |
title_full_unstemmed | Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia |
title_short | Macular Hypoplasia in Congenital Disorder of Glycosylation Type Ia |
title_sort | macular hypoplasia in congenital disorder of glycosylation type ia |
topic | Published online: April, 2012 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362223/ https://www.ncbi.nlm.nih.gov/pubmed/22649348 http://dx.doi.org/10.1159/000338627 |
work_keys_str_mv | AT wangbobz macularhypoplasiaincongenitaldisorderofglycosylationtypeia AT siriwardanapradeep macularhypoplasiaincongenitaldisorderofglycosylationtypeia AT taranathdeepa macularhypoplasiaincongenitaldisorderofglycosylationtypeia |