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Sapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaSapropterin dihydrochloride for phenylketonuriaJumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic EpidemiologyThe 5-HT deficiency theory of depression: perspectives from a naturalistic 5-HT deficiency model, the tryptophan hydroxylase 2Arg439His knockin mouseStructural and mechanistic basis of the interaction between a pharmacological chaperone and human phenylalanine hydroxylaseTransdisciplinary approaches enhance the production of translational knowledgeWhat are genes "for" or where are traits "from"? What is the question?Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significanceProtein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.BmPAH catalyzes the initial melanin biosynthetic step in Bombyx mori.A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries.Translation of Nutritional Genomics into Nutrition Practice: The Next StepBrain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report.Newborn screening.Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria.Phenylalanine hydroxylase deficiency.Association study of 182 candidate genes in anorexia nervosaPhenylalanine hydroxylase from Legionella pneumophila is a thermostable enzyme with a major functional role in pyomelanin synthesis.Phenylalanine hydroxylase misfolding and pharmacological chaperones.Executive strategic processing during verbal fluency performance in children with phenylketonuria.Detecting negative selection on recurrent mutations using gene genealogyProlonged exposure to high and variable phenylalanine levels over the lifetime predicts brain white matter integrity in children with phenylketonuria.Cerivastatin, genetic variants, and the risk of rhabdomyolysis.Altered brain protein expression profiles are associated with molecular neurological dysfunction in the PKU mouse model.Environmental epigeneticsSelection for translation efficiency on synonymous polymorphisms in recent human evolution.Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria.Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.13C-phenylalanine breath test detects altered phenylalanine kinetics in schizophrenia patients.Explaining additional genetic variation in complex traitsIntellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program.Outcomes of phenylketonuria with relevance to follow-upChaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instabilityRelationship between age and white matter integrity in children with phenylketonuria.Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum.Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adultsPreclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The PAH gene, phenylketonuria, and a paradigm shift.
@ast
The PAH gene, phenylketonuria, and a paradigm shift.
@en
type
label
The PAH gene, phenylketonuria, and a paradigm shift.
@ast
The PAH gene, phenylketonuria, and a paradigm shift.
@en
altLabel
ThePAH gene, phenylketonuria, and a paradigm shift
@en
prefLabel
The PAH gene, phenylketonuria, and a paradigm shift.
@ast
The PAH gene, phenylketonuria, and a paradigm shift.
@en
P2860
P356
P1433
P1476
The PAH gene, phenylketonuria, and a paradigm shift.
@en
P2860
P304
P356
10.1002/HUMU.20526
P577
2007-09-01T00:00:00Z