Literature DB >> 14627322

Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome.

J Kusa1, A Pyrkosz, A Skiba, M Szkutnik.   

Abstract

A 2-month-old girl with exudative pericarditis and hypertrophic obstructive cardiomyopathy is presented. The child had characteristic dysmorphic features of carbohydrate-deficient glycoprotein syndrome, which was confirmed by serum levels of carbohydrate-deficient transferrin.

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Year:  2003        PMID： 14627322     DOI： 10.1007/s00246-002-0399-6

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  3 in total

Review 1.  [Carbohydrate-deficient blood glycoprotein syndrome].

Authors:  P de Lonlay; V Cormier-Daire; S Vuillaumier-Barrot; M Cuer; G Durand; A Munnich; J M Saudubray; N Seta
Journal:  Arch Pediatr       Date:  2000-02       Impact factor: 1.180

Review 2.  [CDGS-1--a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80,000, difficult to treat].

Authors:  B Kristiansson; H Stibler; B Hagberg; J Wahlström
Journal:  Lakartidningen       Date:  1998-12-09

3.  Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome.

Authors:  P T Clayton; B G Winchester; G Keir
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  3 in total
  1 in total

Review 1.  Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Authors:  D Marques-da-Silva; R Francisco; D Webster; V Dos Reis Ferreira; J Jaeken; T Pulinilkunnil
Journal:  J Inherit Metab Dis       Date:  2017-07-19       Impact factor: 4.982
  1 in total

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