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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Fabry disease and enzyme replacement therapy in classic patients with same mutation: different

J Politei1, A B Schenone1, G Cabrera2

  • 1Laboratorio Neuroquímica Dr Chamoles (FESEN), Buenos Aires, Argentina.

Clinical Genetics
|March 31, 2015
PubMed

Keywords:
Fabry diseaseagalsidade betaagalsidase alfaenzyme replacement therapy

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