The Genetic Landscape and Epidemiology of Phenylketonuria

Author:

Hillert Alicia,Anikster Yair,Belanger-Quintana Amaya,Burlina Alberto,Burton Barbara K.,Carducci Carla,Chiesa Ana E.,Christodoulou John,Đorđević Maja,Desviat Lourdes R.,Eliyahu Aviva,Evers Roeland A.F.,Fajkusova Lena,Feillet François,Bonfim-Freitas Pedro E.,Giżewska Maria,Gundorova Polina,Karall Daniela,Kneller Katya,Kutsev Sergey I.,Leuzzi Vincenzo,Levy Harvey L.,Lichter-Konecki Uta,Muntau Ania C.,Namour Fares,Oltarzewski Mariusz,Paras Andrea,Perez Belen,Polak Emil,Polyakov Alexander V.,Porta Francesco,Rohrbach Marianne,Scholl-Bürgi Sabine,Spécola Norma,Stojiljković Maja,Shen Nan,Santana-da Silva Luiz C.,Skouma Anastasia,van Spronsen Francjan,Stoppioni Vera,Thöny Beat,Trefz Friedrich K.,Vockley Jerry,Yu Youngguo,Zschocke Johannes,Hoffmann Georg F.,Garbade Sven F.,Blau Nenad

Funder

Fundación Isabel Gemio-Fundación La Caixa

Regional Government of Madrid

NIH

Victorian Government’s Operational Infrastructure Support Program

Dietmar Hopp Foundation, St. Leon-Rot

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference47 articles.

1. Phenylketonuria;Blau;Lancet,2010

2. Phenylalanine hydroxylase: function, structure, and regulation;Flydal;IUBMB Life,2013

3. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria;Himmelreich;Mol. Genet. Metab.,2018

4. Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood;Güttler;Acta Paediatr. Scand. Suppl.,1980

5. Phenylketonuria Scientific Review Conference: state of the science and future research needs;Camp;Mol. Genet. Metab.,2014

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