Research progress on phenotype and genotype of hyperphenylalaninemia / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 219-226, 2018.
Artículo
en Chino
| WPRIM
| ID: wpr-687775
ABSTRACT
Hyperphenylalaninemia(HPA), an autosomal recessive disease, is the most common inborn error of amino acid metabolism, caused by the deficiency of phenylalanine hydroxylase(PAH) or tetrahydrobiopterin(BH4) which induced by mutations of genes. The accumulation of the clinical database and genetic information will enhance the development of novel personalized medicine and to provide more accurate and timely diagnostic and therapeutic approaches for HPA. This paper summarizes the correlations between HPA metabolism and PAH, BH4, pathogenic genes and their distributions in HPA, as well as the phenotypes and genotypes of HPA, so as to provide reference for personalized medicine for HPA.
Texto completo:
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Índice:
WPRIM (Pacífico Occidental)
Idioma:
Chino
Revista:
Journal of Zhejiang University. Medical sciences
Año:
2018
Tipo del documento:
Artículo
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