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...
| Hoofdauteurs: | , , , , , |
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| Formaat: | Artikel |
| Taal: | English |
| Gepubliceerd in: |
Elsevier
2025-03-01
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| Reeks: | Molecular Genetics and Metabolism Reports |
| Onderwerpen: | |
| Online toegang: | http://www.sciencedirect.com/science/article/pii/S2214426924001381 |