Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

  title={Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).},
  author={E. Murias Quintana and Aleix Navarro-Sastre and Jos{\'e} Mar{\'i}a Hern{\'a}ndez-P{\'e}rez and Judit Garc{\'i}a-Villoria and R. Alejandra Montero and Rafael Artuch and A Garc{\'i}a Ribes and Paz Briones},
  journal={Clinical biochemistry},
  volume={42 4-5},
OBJECTIVES Transferrin isoelectrofocusing (Tf-IEF) is widely used to screen for Congenital Disorders of Glycosylation (CDG), but it is laborious, time-consuming, and not suitable for automation or accurate quantification. We present our experience and advantages of the implementation of Tf-HPLC. METHODS Sera were iron saturated, lipid precipitated and filtrated on Microcon-YM10. Glycoforms were separated by HPLC on a SOURCE 15Q anion-exchange column. Detection was at 470 nm. RESULTS We… CONTINUE READING


Publications citing this paper.
Showing 1-10 of 10 extracted citations

Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?

Molecular genetics and metabolism • 2014
View 9 Excerpts
Highly Influenced

JIMD Reports, Volume 27

JIMD Reports • 2016
View 1 Excerpt


Publications referenced by this paper.
Showing 1-10 of 22 references

Congenital disorders of glycosylation.

Annals of the New York Academy of Sciences • 2010
View 1 Excerpt

Congenital disorders of glycosylation: a rapidly expanding disease family.

Annual review of genomics and human genetics • 2007
View 1 Excerpt

Screening and diagnosis of congenital disorders of glycosylation.

Clinica chimica acta; international journal of clinical chemistry • 2007
View 1 Excerpt

About an asymptomatic congenital disorder of glycosylation (CDG-Ia) subject

T Dupre, A David, +4 authors N. Seta
J Inherit Metab Dis • 2005
View 1 Excerpt

Similar Papers

Loading similar papers…