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Diagnosis of CDG syndromes (detection of major anomalies in the glycosylation of serum glycoproteins; PMM, PMI enzyme assays)

  • Centre d'tude des Glycopathies
  • Laboratoire de biochimie A mtabolique et cellulaire
  • CHU Paris Nord-Val de Seine - Hpital Xavier Bichat-Claude Bernard
  • 46 rue Henri Huchard
  • 75018 PARIS
  • FRANCE
  • Director of laboratory : Pr Nathalie SETA
  • More information
  • Phone : 33 (0)1 40 25 85 43
  • Additional Phone : 33 (0)1 40 25 64 62
  • Fax : 33 (0)1 40 25 88 21
Last update: November 2019

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Biochemical genetics
Analyte / Enzyme assay
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List of diseases and genes

List of diseases tested (1)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.