A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion

Background: Inherited deficiency of phosophomannomutase (PMM2) causes a human glycosylation disorder known as Congenital Disorder of Glycosylation Ia. Case Presentation: Herein, we describe a case of congenital disorder of glycosylation Ia, presented with recurrent pericardial effusion and unusual f...

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Detalles Bibliográficos
Autores principales: Işıkay, Sedat, Başpınar, Osman, Yılmaz, Kutluhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359423/
https://www.ncbi.nlm.nih.gov/pubmed/25793077

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