Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia. [electronic resource]
Producer: 20200520Description: 1036-1045 p. digitalISSN:- 1592-8721
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.