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Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.
Tao, Yilun; Han, Dong; Shen, Huiyi; Li, Xiaoze.
Affiliation
  • Tao Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Han D; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Shen H; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China.
  • Li X; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, 38 Weiyuanmen Road, Changzhi, Shanxi 046000, China. Electronic address: lixiaoze520@126.com.
Brain Dev ; 43(2): 220-229, 2021 Feb.
Article in En | MEDLINE | ID: mdl-32893076
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine Hydroxylase / Phenylketonurias Type of study: Risk_factors_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Brain Dev Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine Hydroxylase / Phenylketonurias Type of study: Risk_factors_studies Limits: Female / Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Brain Dev Year: 2021 Document type: Article Affiliation country: Country of publication: