Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, neurometabolic disorder resulting from biallelic mutations in the dopa decarboxylase (DDC) gene. This is the first reported case of AADC deficiency in the United Arab Emirates (UAE) and describes an Emirati male patient who presented i...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Book |
| Published: |
Frontiers Media S.A.,
2022-08-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |