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Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
- Authors :
- Genetica Sectie Metabole Diagnostiek
Child Health
Cancer
van Karnebeek, Clara D M
Ramos, Rúben J
Wen, Xiao-Yan
Tarailo-Graovac, Maja
Gleeson, Joseph G
Skrypnyk, Cristina
Brand-Arzamendi, Koroboshka
Karbassi, Farhad
Issa, Mahmoud Y
van der Lee, Robin
Drögemöller, Britt I
Koster, Janet
Rousseau, Justine
Campeau, Philippe M
Wang, Youdong
Cao, Feng
Li, Meng
Ruiter, Jos
Ciapaite, Jolita
Kluijtmans, Leo A J
Willemsen, Michel A A P
Jans, Judith J
Ross, Colin J
Wintjes, Liesbeth T
Rodenburg, Richard J
Huigen, Marleen C D G
Jia, Zhengping
Waterham, Hans R
Wasserman, Wyeth W
Wanders, Ronald J A
Verhoeven-Duif, Nanda M
Zaki, Maha S
Wevers, Ron A
Genetica Sectie Metabole Diagnostiek
Child Health
Cancer
van Karnebeek, Clara D M
Ramos, Rúben J
Wen, Xiao-Yan
Tarailo-Graovac, Maja
Gleeson, Joseph G
Skrypnyk, Cristina
Brand-Arzamendi, Koroboshka
Karbassi, Farhad
Issa, Mahmoud Y
van der Lee, Robin
Drögemöller, Britt I
Koster, Janet
Rousseau, Justine
Campeau, Philippe M
Wang, Youdong
Cao, Feng
Li, Meng
Ruiter, Jos
Ciapaite, Jolita
Kluijtmans, Leo A J
Willemsen, Michel A A P
Jans, Judith J
Ross, Colin J
Wintjes, Liesbeth T
Rodenburg, Richard J
Huigen, Marleen C D G
Jia, Zhengping
Waterham, Hans R
Wasserman, Wyeth W
Wanders, Ronald J A
Verhoeven-Duif, Nanda M
Zaki, Maha S
Wevers, Ron A
- Publication Year :
- 2019
Details
- Database :
- OAIster
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1395298930
- Document Type :
- Electronic Resource