Expanding the clinical and genetic spectrum of CAD...

Genetics in Medicine 2020 / 08

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

Rymen, Daisy, Lindhout, Martijn, Spanou, Maria, Ashrafzadeh, Farah, Benkel, Ira, Betzler, Cornelia, Coubes, Christine, Hartmann, Hans, Kaplan, Julie D., Ballhausen, Diana, Koch, Johannes, Lotte, Jan,
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Journal:
Genetics in Medicine
DOI:
10.1038/s41436-020-0933-z
Date:
August, 2020
File:
PDF, 690 KB
2020
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