Literature DB >> 2014040

Phenylketonuria--genotypes and phenotypes.

C R Scriver.   

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Year:  1991        PMID： 2014040     DOI： 10.1056/NEJM199105023241810

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  7 in total

1.  Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

Authors:  Christineh N Sarkissian; Alejandra Gamez; Patrick Scott; Jerome Dauvillier; Alejandro Dorenbaum; Charles R Scriver; Raymond C Stevens
Journal:  JIMD Rep       Date:  2011-12-06

Review 2.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

3.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

Review 4.  Relevance of the Human Genome Project to inherited metabolic disease.

Authors:  J Burn
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study.

Authors:  A M Paans; J Pruim; G P Smit; G Visser; A T Willemsen; K Ullrich
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

6.  Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study.

Authors:  Liangcheng Xiang; Jing Tao; Kui Deng; Xiaohong Li; Qi Li; Xuelian Yuan; Juan Liang; Erling Yu; Meixian Wang; Huiqing Wang; Hanmin Liu; Jun Zhu
Journal:  BMJ Open       Date:  2019-08-22       Impact factor: 2.692

Review 7.  Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism.

Authors:  Ladan Mehran; Davood Khalili; Shahin Yarahmadi; Atieh Amouzegar; Mehdi Mojarrad; Nasrin Ajang; Fereidoun Azizi
Journal:  Int J Endocrinol Metab       Date:  2017-06-25
  7 in total

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