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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Clinical features of and recent advances in therapy for Fabry disease

R O Brady1, R Schiffmann

  • 1Developmental Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 10 Center Dr, MSC 1260, Bethesda, MD 20892-1260, USA.

JAMA
|December 6, 2000
PubMed

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