Associated Papers
Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.
Dong M et al.
Frontiers in Pediatrics, 2022
Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.
Chen T et al.
Scientific Reports, 2018
[Research progress on phenotype and genotype of hyperphenylalaninemia].
Chen T et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2018
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.
Aldámiz-Echevarría L et al.
Journal of Human Genetics, 2016
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Select a paper to view details