Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

Maja Di Rocco, T. Hennet, C. E. Grubenmann, S. Pagliardini, A. E M Allegri, C. G. Frank, M. Aebi, S. Vignola, J. Jaeken

Research output: Contribution to journalArticle

Abstract

We report a new patient with CDG Ig and review the five other known patients. From the data on this small number of patients, it seems that the association of psychomotor retardation, male hypogenitalism and decreased serum IgG in a patient with a type 1 pattern of serum sialotransferrins might be a clue to the diagnosis of CDG Ig.

Original languageEnglish
Pages (from-to)1162-1164
Number of pages3
JournalJournal of Inherited Metabolic Disease
Volume28
Issue number6
DOIs
Publication statusPublished - Dec 2005

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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    Di Rocco, M., Hennet, T., Grubenmann, C. E., Pagliardini, S., Allegri, A. E. M., Frank, C. G., Aebi, M., Vignola, S., & Jaeken, J. (2005). Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature. Journal of Inherited Metabolic Disease, 28(6), 1162-1164. https://doi.org/10.1007/s10545-005-0137-3