Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
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Published:2020-10
Issue:10
Volume:22
Page:1589-1597
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
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,
Mohammadi Mohammad Hasan,
Rohrbach Marianne,
Dinopoulos Argirios,
Wermuth Marieke,
Willis Daniel,
Brugger Karin,
Wevers Ron A.,
Boltshauser Eugen,
Bierau Jörgen,
Mayr Johannes A.,
Wortmann Saskia B.ORCID
Subject
Genetics (clinical)
Cited by
18 articles.
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