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Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

Xin Wang1, Yanyun Wang1, Dingyuan Ma1

  • 1Genetic Medicine Center, Nanjing Maternity and Child Health Care Hospital, Women's Hospital of Nanjing Medical University, 123 Tianfei St., Qinhuai District, Nanjing, 210004, People's Republic of China.

Orphanet Journal of Rare Diseases
|May 13, 2021
PubMed
Abstract

Keywords:
HyperphenylalaninemiaNeonatal screeningPhenylalanine hydroxylase deficiencyTetrahydrobiopterin deficiency

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