Associated Papers
Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.
Xiao Y et al.
Chinese Medical Journal, 2021
34039861 (PubMed )
Supplement: cm9-134-1626-s001.pdf
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.
Li N et al.
Scientific Reports, 2015
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
Sterl E et al.
Journal of Inherited Metabolic Disease, 2013
The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.
Groselj U et al.
Journal of Inherited Metabolic Disease, 2013
Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Groselj U et al.
Molecular Genetics and Metabolism, 2012
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Karacić I et al.
Molecular Genetics and Metabolism, 2009
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