Novel metabolic signatures of compound heterozygous...

Clinical Case Reports 2018 / 12 Vol. 6; Iss. 12

Novel metabolic signatures of compound heterozygous Szt2 variants in a case of early-onset of epileptic encephalopathy

Uittenbogaard, Martine, Gropman, Andrea, Brantner, Christine A., Chiaramello, Anne
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Volume:
6
Language:
english
Journal:
Clinical Case Reports
DOI:
10.1002/ccr3.1868
Date:
December, 2018
File:
PDF, 992 KB
english, 2018
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