The metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland
We present a case series of seven patients (5 males, 2 females, aged 7–38 yrs.) in Ireland with biopterin metabolism disorder. Five individuals had been diagnosed with dihydropteridine reductase (DHPR) deficiency and two with pyruvoyl tetrahydropterin synthase (PTPS) deficiency. While clinical sympt...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-03-01
|
| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426924001381 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!