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SaS

Supra-Regional Assay Service

Centres for Analysis and Clinical Interpretation

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  1. Home
  2. Assays
  3. Metabolism
  4. Genetic Enzymes
  5. Transport Defects

Transport Defects

DISORDER
ENZYME OR TEST
Cystinosis* 35S-cystine incorporation
Salla disease and Infantile acetylneuraminic acid storage disease and Sialuria N-acetylneuraminic acid

(* = prenatal diagnosis available)

Back to Alphabetical List of Assays Available

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