Orphanet: Diagnostic biochimique de l_acidurie m�thylmalonique dos� par GCMS m�thode quantitative par dilution � l_isotope stable
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Biochemical diagnosis of methlymalonic acidemia (by GC/MS - quantitative method by stable isotope dilution)

  • Laboratoire de gntique biochimique
  • Service de gntique, dpartement de pdiatrie, local 1428
  • CIUSSS de l'Estrie - CHUS Fleurimont
  • 3001, 12e Avenue Nord
  • J1H 5N4 SHERBROOKE
  • CANADA
  • Director of laboratory : Pr Paula J WATERS
  • More information
  • Phone : 1-(819)-564-5393
  • Additional Phone : 1-(819)-564-5253
  • Fax : 1-(819)-564-5217
  • Website
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Biochemical genetics
Analyte / Enzyme assay
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