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Paper Title
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
PubMed
Paper Journal Title
J Clin Invest
Paper Citation Count
6
Paper Publication Year
2023
Bio Mention
CERT, CERT1, CerTra, CerTra syndrome, Drosophila, ceramide, ceramide transporter, ceramide transporter (CerTra) syndrome, human, intellectual disability, morphological and motor abnormalities, patients, sphingolipid, sphingolipids
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Author Name
Affiliation
Christian Gilissen
Radboud University Medical Center
Christian Gilissen
Radboud Institute for Molecular Life Sciences
Irene Valenzuela
University Hospital Vall d'Hebron, Valle Hebron Research Institute
LluÃs Armengol
Angelo Selicorni
ASST Lariana Sant' Anna Hospital
Renske Oegema
University Medical Center Utrecht, Utrecht University
Bruno Lemaitre
Global Health Institute
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