TY  - GEN
AU  - Bariana,Tadbir K
AU  - Labarque,Veerle
AU  - Heremans,Jessica
AU  - Thys,Chantal
AU  - De Reys,Mara
AU  - Greene,Daniel
AU  - Jenkins,Benjamin
AU  - Grassi,Luigi
AU  - Seyres,Denis
AU  - Burden,Frances
AU  - Whitehorn,Deborah
AU  - Shamardina,Olga
AU  - Papadia,Sofia
AU  - Gomez,Keith
AU  - BioResource,Nihr
AU  - Van Geet,Chris
AU  - Koulman,Albert
AU  - Ouwehand,Willem H
AU  - Ghevaert,Cedric
AU  - Frontini,Mattia
AU  - Turro,Ernest
AU  - Freson,Kathleen
TI  - Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia
SN  - 1592-8721
PY  - 2020///0520
KW  - Alcohol Oxidoreductases
KW  - deficiency
KW  - Animals
KW  - Blood Platelets
KW  - metabolism
KW  - Cell Differentiation
KW  - Cells, Cultured
KW  - Child
KW  - Female
KW  - Humans
KW  - Induced Pluripotent Stem Cells
KW  - Male
KW  - Megakaryocytes
KW  - Metabolomics
KW  - Mutation
KW  - Pedigree
KW  - Prognosis
KW  - Sphingolipids
KW  - Thrombocytopenia
KW  - etiology
KW  - Zebrafish
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.3324/haematol.2018.204784
ER  -