Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
Abstract
Cerebral creatine deficiencies (CCD's) are a small group of disorders mainly concerned with creatine biosynthesis and utilization in the brain at the blood-brain interface. The most common CCD is:
- creatine transporter defect (CTD), an X-linked condition caused by mutations in the "SLC6A8" gene.
The two other forms of CCD are creatine "enzymatic" defects (CED's) in creatine biosynthesis, i.e. the enzyme deficiencies:
- , and
- guanidinoacetate methyltransferase deficiency.