Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia-Reference-Cited by-同舟云学术

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Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

Published:2002-11 Issue:3 Volume:77 Page:260-266
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Bardelli T,Donati M.A,Gasperini S,Ciani F,Belli F,Blau N,Morrone A,Zammarchi E

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference14 articles.

1. Treatable neurotransmitter deficiency in mild phenylketonuria;Bonafe;Neurology,2001

2. Mental illness in mild PKU responds to biopterin;Koch;Mol. Genet. Metab.,2002

3. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency;Scriver,2001

4. Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype–phenotype correlations;Kayaalp;Am. J. Hum. Genet.,1997

5. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype;Guldberg;Am. J. Hum. Genet.,1998

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. One too many: intellectual disability secondary to undiagnosed phenylketonuria;Hong Kong Medical Journal;2016-10-07

2. Computational study of missense mutations in phenylalanine hydroxylase;Journal of Molecular Modeling;2015-03-07

3. Assessment of tetrahydrobiopterin (BH4)-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population;Molecular Genetics and Metabolism;2012-09

4. Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2011-11

5. Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria;Journal of Inherited Metabolic Disease;2008-10-30

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