Also known as
Fabry''s disease, Anderson-Fabry disease
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Enzymology is unreliable for the diagnosis of Fabry disease in female patients. Please also consider molecular genetics testing in female patients.
Chemical Pathology Reception
Level 1, Camelia Botnar Building
Great Ormond Street Hospital
Great Ormond Street
Blood spot or 5-8 ml Lithium Heparin whole blood
see report or contact laboratory
Disease / group
Fabry Disease, Lysosomal storage disorder
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