Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
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Jeannesson-Thivisol E, et al. Among authors: gueant jl.
Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x.
Orphanet J Rare Dis. 2015.
PMID: 26666653
Free PMC article.