Author:
Trunzo Roberta,Santacroce Rosa,Shen Nan,Jung-Klawitter Sabine,Leccese Angelica,De Girolamo Giuseppe,Margaglione Maurizio,Blau Nenad
Subject
Genetics,General Medicine
Reference24 articles.
1. First structure of full-length mammalian phenylalanine hydroxylase reveals the architecture of an autoinhibited tetramer;Arturo;Proc. Natl. Acad. Sci. U. S. A.,2016
2. Molecular genetics and diagnosis of phenylketonuria: state of the art;Blau;Expert. Rev. Mol. Diagn.,2014
3. Phenylketonuria;Blau;Lancet,2010
4. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study;Burton;J. Inherit. Metab. Dis.,2007
5. Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics;Dipple;Am. J. Hum. Genet.,2000
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