Literature DB >> 20363168

Phenylketonuria management from an European perspective: a commentary.

Francjan J van Spronsen1.   

Abstract

Phenylketonuria is discussed from an European perspective, addressing the need of common definitions of terms commonly used, the need of a world-wide guideline on the diagnosis and treatment of phenylketonuria, the differences between existing European guidelines, and day-to-day care, further directives for the near future, and changing the concept from compliance to concordance, in which patients have a more clearly defined responsibility.

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Year:  2010        PMID: 20363168     DOI: 10.1016/j.ymgme.2010.03.003

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  3 in total

Review 1.  New protein structures provide an updated understanding of phenylketonuria.

Authors:  Eileen K Jaffe
Journal:  Mol Genet Metab       Date:  2017-06-15       Impact factor: 4.797

Review 2.  The complete European guidelines on phenylketonuria: diagnosis and treatment.

Authors:  A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2017-10-12       Impact factor: 4.123

3.  Requirements for a minimum standard of care for phenylketonuria: the patients' perspective.

Authors:  Tobias S Hagedorn; Paul van Berkel; Gregor Hammerschmidt; Markéta Lhotáková; Rosalia Pasqual Saludes
Journal:  Orphanet J Rare Dis       Date:  2013-12-17       Impact factor: 4.123

  3 in total

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