Orphanet: Diagnostic des maladies peroxysomales dosage des acides gras � tr�s longue cha�ne du plasma, des acides pristaniques et phytaniques

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'Diagnosis of peroxisomal diseases (very long chain fatty acids assay in plasma; phytanic and pristanic acids assays)'

Despite our efforts to ensure that data is up to date, this activity has not been validated since 13/06/2014
  • UF Biochimie des maladies neuromtaboliques
  • Dpartement de Biochimie mtabolique
  • APHP.Sorbonne Universit, Hpital de la Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 75013 PARIS
  • Director of laboratory : Dr Claude JARDEL
  • More information
  • Phone : 33 (0)1 42 16 21 74
  • Additional Phone : -
  • Fax : 33 (0)1 42 16 20 33
  • Contact
Last update: June 2014

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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