2 research outputs found
Additional file 1: Figure S1. of Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
Frequency of positive BH4-loading test is higher in mildest PKU phenotypes. Error bars represent the 95 % confidence intervals. Fisher exact test, ***p ≤ 0.001, **p ≤ 0.01, *p ≤ 0.05. (TIF 32 kb
Additional file 5: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Clinical pictures of patients #8 (A) and #9 (B) (mutated in ERCC8(CSA)). (PPTX 403 kb