Bariana, Tadbir K

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. [electronic resource] - Haematologica 05 2019 - 1036-1045 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1592-8721

10.3324/haematol.2018.204784 doi


Alcohol Oxidoreductases--deficiency
Animals
Blood Platelets--metabolism
Cell Differentiation
Cells, Cultured
Child
Female
Humans
Induced Pluripotent Stem Cells--metabolism
Male
Megakaryocytes--metabolism
Metabolomics
Mutation
Pedigree
Prognosis
Sphingolipids--metabolism
Thrombocytopenia--etiology
Zebrafish