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Molecular genetics and metabolism, ISSN 1096-7192, 12/2019
Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations in the PAH gene, resulting in deficiency of phenylalanine hydroxylase (PAH), an... 
Journal Article
MOLECULAR GENETICS AND METABOLISM, ISSN 1096-7192, 12/2019, Volume 128, Issue 4, pp. 415 - 421
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in the phenylalanine hydroxylase gene (PAH). The... 
DISCORDANT PKU PHENOTYPE | MEDICINE, RESEARCH & EXPERIMENTAL | Phenylketonuria | DEFICIENCY | Hyperphenylalaninemia | MOLECULAR ANALYSIS | COEXPRESSION | GENE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | TETRAHYDROBIOPTERIN | MUTATIONS | MILD HYPERPHENYLALANINEMIA | INHERITANCE | Sapropterin dihydrochloride | Hemizygotes
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2011, Volume 104, pp. S86 - S92
Hyperphenylalaninemia (HPA, OMIM #261600), which includes phenylketonuria (PKU), is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH),... 
Genotype | Phenylketonuria | Phenotype | Tetrahydrobiopterin | Hyperphenylalaninemia
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 10/2015, Volume 450, pp. 51 - 55
We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 33 Italian PKU families. Mutational screening of... 
BH 4 responsiveness prediction | Genotype-phenotype correlation | Hyperphenylalaninemia
Journal Article
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego, ISSN 1426-9686, 04/2016, Volume 40, Issue 238, pp. 223 - 229
Journal Article
12/2010
Objective: Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4), deficiency causes accumulation of phenylalanine in body fluids and central... 
Screening | Newborn | PKU | Hyperphenylalaninemia | BH4
Web Resource
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 04/2015, Volume 32, Issue 2, pp. 158 - 162
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, p. 162
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that... 
Phenylketonurias - therapy | Phenylketonurias - diagnosis | Europe | Humans | Practice Guidelines as Topic
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 03/2019, Volume 490, pp. 172 - 175
Hyperphenylalaninemia (HPA), an abnormal condition of phenylalanine metabolism, was recently reported to be caused by mutations. As the heat shock... 
Newborn screening | DNAJC12 | Clinical feature | Hyperphenylalaninemia | DIAGNOSIS | MEDICAL LABORATORY TECHNOLOGY | DYSTONIA | Phenylketonurias - genetics | Base Sequence | Humans | Repressor Proteins - genetics | Male | Child | Infant, Newborn
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 9, pp. 2480 - 2492
Journal Article