RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation

Author： Jaeken J. Vleugels W. Régal L. Corchia C. Goemans N. Haeuptle M. Foulquier F. Hennet T. Matthijs G. Dionisi-Vici C.

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.32, Iss.1, 2009-12, pp. : 335-338

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)

By Clayton P. Grunewald S.

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 137-139

Springer Publishing Company

Access to resources Recommend Favorite

Congenital Disorders of Glycosylation (CDG): Update and Perspectives

Current Pediatric Reviews, Vol. 2, Iss. 4, 2006-11 ,pp. : 323-330

Bentham Science Publishers

Access to resources Recommend Favorite

Congenital disorders of glycosylation (CDG): Update and new developments

By Jaeken J.

Journal of Inherited Metabolic Disease, Vol. 27, Iss. 3, 2004-01 ,pp. : 423-426

Springer Publishing Company

Access to resources Recommend Favorite

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

By Footitt E. Karimova A. Burch M. Yayeh T. Dupré T. Vuillaumier-Barrot S. Chantret I. Moore S. Seta N. Grunewald S.

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 313-319

Springer Publishing Company

Access to resources Recommend Favorite

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

By Jaeken Jaak

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 4, 2011-08 ,pp. : 853-858

Springer Publishing Company

Access to resources Recommend Favorite