Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy

Spatikha Sitaram, Hetalika C Banka, Grace Vassallo, Julija Pavaine, Adele Fairclough, Ronnie Wright, Lynette Fairbanks, Jörgen Bierau, Lydia Bowden, Bernd Schwahn, Alistair Horman, Siddharth Banka

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology