An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
The present study summarizes clinical and biochemical findings, current treatment strategies and follow-up in patients with tetrahydrobiopterin (BH4) deficiencies.
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| Hauptverfasser: | , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
23 June 2012
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| In: |
Journal of inherited metabolic disease
Year: 2012, Jahrgang: 35, Heft: 6, Pages: 963-973 |
| ISSN: | 1573-2665 |
| DOI: | 10.1007/s10545-012-9506-x |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1007/s10545-012-9506-x Verlag, Volltext: https://link.springer.com/article/10.1007/s10545-012-9506-x 
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| Verfasserangaben: | Thomas Opladen, Georg F. Hoffmann, Nenad Blau |
| Zusammenfassung: | The present study summarizes clinical and biochemical findings, current treatment strategies and follow-up in patients with tetrahydrobiopterin (BH4) deficiencies. |
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| Beschreibung: | Gesehen am 06.06.2018 |
| Beschreibung: | Online Resource |
| ISSN: | 1573-2665 |
| DOI: | 10.1007/s10545-012-9506-x |