Molecular genetics and diagnosis of phenylketonuria: State of the art

Expert Review of Molecular Diagnostics

Volumn 14, Issue 6, 2014, Pages 655-671

  Blau, Nenad ^a,b   Shen, Nan ^a   Carducci, Carla ^c  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

BH4; Hyperphenylalaninemia; Kuvan; PKU; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE; BIOPTERIN; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN;

AUTOSOMAL RECESSIVE DISORDER; DISEASE SEVERITY; ENZYME ACTIVITY; GENE LOCUS; GENETIC DATABASE; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NEWBORN SCREENING; PATHOPHYSIOLOGY; PHENOTYPE; PHENYLKETONURIA; REVIEW; ANALOGS AND DERIVATIVES; GENETIC ASSOCIATION; GENETIC SCREENING; GENETICS; HYDROLYSIS; MALE; METABOLISM; PHENYLKETONURIAS; TREATMENT OUTCOME;

BIOPTERIN; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; HUMANS; HYDROLYSIS; MALE; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TREATMENT OUTCOME;

EID: 84903129111     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/14737159.2014.923760     Document Type: Review

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