A CASE OF CONGENITAL DISORDER OF GLYCOSYLATION IA PRESENTED WITH RECURRENT PERICARDIAL EFFUSION

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ISIKAY SEDAT; BASPINAR OSMAN; YILMAZ KUTLUHAN

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Journal Paper

Paper Information

Journal: Iranian Journal of Pediatrics Year:2014 | Volume:24 | Issue:5 Page(s): 652-654

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Title

A CASE OF CONGENITAL DISORDER OF GLYCOSYLATION IA PRESENTED WITH RECURRENT PERICARDIAL EFFUSION

Author(s)

ISIKAY SEDAT | BASPINAR OSMAN | YILMAZ KUTLUHAN | Issue Writer Certificate

Keywords

CONGENITAL DISORDER OF GLYCOSYLATION IA

PERICARDIAL EFFUSION

INBORN ERROR OF METABOLISM

DYSMORPHIA

Abstract

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 findings of inverted nipples, fat pads, reduced deep-tendon reflexes and multisystem involvement.Conclusion: CONGENITAL DISORDER OF GLYCOSYLATION IA should be considered in children with developmental delay, those with multi-system disease involving neurologic, gastrointestinal, ophthalmologic, cardiac or endocrine systems. On the other hand, severe cardiac involvement may also be a feature of CONGENITAL DISORDER OF GLYCOSYLATION IA and diagnosed patients should also be evaluated in this respect.

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APA: Copy

ISIKAY, SEDAT, BASPINAR, OSMAN, & YILMAZ, KUTLUHAN. (2014). A CASE OF CONGENITAL DISORDER OF GLYCOSYLATION IA PRESENTED WITH RECURRENT PERICARDIAL EFFUSION. IRANIAN JOURNAL OF PEDIATRICS, 24(5), 652-654. SID. https://sid.ir/paper/637194/en

Vancouver: Copy

ISIKAY SEDAT, BASPINAR OSMAN, YILMAZ KUTLUHAN. A CASE OF CONGENITAL DISORDER OF GLYCOSYLATION IA PRESENTED WITH RECURRENT PERICARDIAL EFFUSION. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2014;24(5):652-654. Available from: https://sid.ir/paper/637194/en

IEEE: Copy

SEDAT ISIKAY, OSMAN BASPINAR, and KUTLUHAN YILMAZ, “A CASE OF CONGENITAL DISORDER OF GLYCOSYLATION IA PRESENTED WITH RECURRENT PERICARDIAL EFFUSION,” IRANIAN JOURNAL OF PEDIATRICS, vol. 24, no. 5, pp. 652–654, 2014, [Online]. Available: https://sid.ir/paper/637194/en

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