Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria
Author:
Funder
FP7-HEALTH
China Scholarship Council
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference74 articles.
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2. Phenylalanine hydroxylase deficiency: diagnosis and management guideline;Vockley;Genet. Med.,2014
3. Phenylketonuria scientific review conference: State of the science and future research needs;Camp;Mol. Genet. Metab.,2014
4. Molecular genetics and diagnosis of phenylketonuria: state of the art;Blau;Expert. Rev. Mol. Diagn.,2014
5. Genetics of Phenylketonuria: Then and Now;Blau;Hum. Mutat.,2016
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