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.

Detalles Bibliográficos
Autores principales: Wang, Bob Z., Siriwardana, Pradeep, Taranath, Deepa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2012
Materias:
Published online: April, 2012
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
Descripción
Sumario: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.

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