Orphanet: Diagn�stico bioqu�mico dos defeitos cong�nitos da glicosila��o CDG Ia a Io IIa, IIb a IIo

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Biochemical diagnosis of CDG syndromes (CDG Ia to Io; IIa, IIb to IIo)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 17/11/2011
  • Unidade de Bioqumica Gentica - Departamento de gentica
  • Centro de Gentica Mdica Jacinto Magalhes - Centro Hospitalar do Porto
  • CGMJM - Centro de Gentica Mdica Jacinto Magalhes
  • Praa Pedro Nunes 88
  • 4099 PORTO 028
  • Director of laboratory : Dr Lcia M. LACERDA
  • More information
  • Phone : 351 226 070 317
  • Additional Phone : 351 226 070 340
  • Fax : 351 226 070 499
  • Website
Last update: November 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Biochemical genetics
Analyte / Enzyme assay

List of diseases and genes

List of diseases tested (1)
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