Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I

Author： Guillard Mailys   Wada Yoshinao   Hansikova Hana   Yuasa Isao   Vesela Katerina   Ondruskova Nina   Kadoya Machiko   Janssen Alice   Heuvel Lambertus   Morava Eva   Zeman Jiri   Wevers Ron   Lefeber Dirk  

Publisher： Springer Publishing Company

ISSN： 0141-8955

Source： Journal of Inherited Metabolic Disease, Vol.34, Iss.4, 2011-08, pp. : 901-906

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

The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

By Sturiale Luisa   Barone Rita   Garozzo Domenico  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 4, 2011-08 ,pp. : 891-899

Springer Publishing Company

Access to resources Recommend Favorite

Mouse models for congenital disorders of glycosylation

By Thiel Christian   Körner Christian  

Journal of Inherited Metabolic Disease, Vol. 34, Iss. 4, 2011-08 ,pp. : 879-889

Springer Publishing Company

Access to resources Recommend Favorite

Congenital Disorders of Glycosylation (CDG): Update and Perspectives

By  

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

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

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

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

Springer Publishing Company

Access to resources Recommend Favorite