A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
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Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.Up to date knowledge on different treatment strategies for phenylketonuria.Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?
P2860
A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
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2009 nî lūn-bûn
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2009年の論文
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name
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@en
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@nl
type
label
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@en
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@nl
prefLabel
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@en
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@nl
P2093
P2860
P356
P1476
A limited spectrum of phenylal ...... t with 6R tetrahydrobiopterin.
@en
P2093
C C Ellingson
E W Naylor
Steven F Dobrowolski
P2860
P2888
P304
P356
10.1038/JHG.2009.37
P577
2009-05-15T00:00:00Z