Orphanet: Diagnostik peroxisomaler Stoffwechselerkrankungen �berlangkettige Fetts�uren, Phytans�ure, Pipecolins�ure im Plasma, Plasmalogene in Erythrozyten, Gallens�uren im Urin
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Diagnosis of peroxisomal disorders (very long chain fatty acids, phytanic acid, pipecolic acid in plasma, erythrocyte plasmalogen levels, bile acids in urine)

  • Klinik fr Kinderheilkunde I - Stoffwechsellabor
  • Dietmar-Hopp-Stoffwechselzentrum
  • Im Neuenheimer Feld 669
  • 69120 HEIDELBERG
  • GERMANY
  • Director of laboratory : Dr Jrgen G OKUN
  • More information
  • Phone : 49 (0)6221 56 8276
  • Additional Phone : -
  • Fax : 49 (0)6221 56 5565
  • Website
  • Contact
Last update: June 2020

Responsible of diagnostic test

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

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