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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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Bibliographic Details
Main Authors: Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author)
Format: Article (Journal)
Language:English
Published: 23 June 2012
In: Journal of inherited metabolic disease
Year: 2012, Volume: 35, Issue: 6, Pages: 963-973
ISSN:1573-2665
DOI:10.1007/s10545-012-9506-x
Online Access: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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Author Notes:Thomas Opladen, Georg F. Hoffmann, Nenad Blau

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