The complete European guidelines on phenylketonuria: diagnosis and treatment-Reference-Cited by-同舟云学术

The complete European guidelines on phenylketonuria: diagnosis and treatment

Published:2017-10-12 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

van Wegberg A. M. J.,MacDonald A.,Ahring K.,Bélanger-Quintana A.,Blau N.,Bosch A. M.,Burlina A.,Campistol J.,Feillet F.,Giżewska M.,Huijbregts S. C.,Kearney S.,Leuzzi V.,Maillot F.,Muntau A. C.,van Rijn M.,Trefz F.,Walter J. H.,van Spronsen F. J.

Funder

European Society of Phenylketonuria and Allied Disorders

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0685-2.pdf

Reference489 articles.

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2. de Groot MJ, Hoeksma M, Blau N, Reijngoud DJ, van Spronsen FJ. Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Mol Genet Metab. 2010;99(Suppl 1):S86–9.

3. Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U. Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Mol Genet Metab. 2011;104(Suppl):S2–9.

4. Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis. 2007;30(4):430–8.

5. Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet Metab. 2010;101(2–3):99–109.

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