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

@article{MarquesdaSilva2017CardiacCO,
  title={Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature},
  author={Dorinda Marques-da-Silva and Rubio Francisco and D. Webster and Vanessa Reis Ferreira and Jacques Jaeken and Thomas Pulinilkunnil},
  journal={Journal of Inherited Metabolic Disease},
  year={2017},
  volume={40},
  pages={657-672}
}
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation… CONTINUE READING
1
Twitter Mention

Citations

Publications citing this paper.
SHOWING 1-10 OF 11 CITATIONS

CDG Therapies: From Bench to Bedside

  • International journal of molecular sciences
  • 2018
VIEW 1 EXCERPT
CITES BACKGROUND

Recognizable phenotypes in CDG

  • Journal of Inherited Metabolic Disease
  • 2018

References

Publications referenced by this paper.
SHOWING 1-10 OF 136 REFERENCES

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

  • European Journal of Human Genetics
  • 2012
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects.

  • American journal of human genetics
  • 2011
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL

clinical details and treatment in PGM1-CDG

V Shashi, J Zunich, TE Kelly, JS Fryburg
  • JIMD Rep
  • 1995
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL

The genotypic and phenotypic spectrum of PIGA deficiency

  • Orphanet Journal of Rare Diseases
  • 2015
VIEW 1 EXCERPT
HIGHLY INFLUENTIAL

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

  • American journal of medical genetics. Part A
  • 2013
VIEW 4 EXCERPTS
HIGHLY INFLUENTIAL