Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
about
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsivenessGenetics of Phenylketonuria: Then and Now.The complete European guidelines on phenylketonuria: diagnosis and treatment.Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
P2860
Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Mapping the functional landsca ...... d medicine in phenylketonuria.
@en
type
label
Mapping the functional landsca ...... d medicine in phenylketonuria.
@en
prefLabel
Mapping the functional landsca ...... d medicine in phenylketonuria.
@en
P2093
P2860
P1476
Mapping the functional landsca ...... d medicine in phenylketonuria.
@en
P2093
Ania C Muntau
François Feillet
Johannes Zschocke
Marta K Danecka
Mathias Woidy
Søren W Gersting
P2860
P304
P356
10.1136/JMEDGENET-2014-102621
P407
P577
2015-01-16T00:00:00Z