Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 116-121

  Dobrowolski, Steven F ^a   Heintz, Caroline ^b   Miller, Trent ^c   Ellingson, Clinton ^d   Ellingson, Clifford ^e   Özer, Isil ^f   Gökçay, Gulden ^f   Baykal, Tolunay ^f   Thöny, Beat ^b,g,h   Demirkol, Mübeccel ^f   Blau, Nenad ^b,g,h  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Idaho Technology Inc   (United States)

^d PENN STATE COLLEGE OF MEDICINE   (United States)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f ISTANBUL UNIVERSITY   (Turkey)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h Pediatric Research Center (PRC)   (Switzerland)

Author keywords

BH4; Hyperphenylalaninemia; PAH; Phenylketonuria; PKU; Sapropterin

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ADULT; ARTICLE; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PHENYLKETONURIA; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE DRUG DOSE; TREATMENT RESPONSE; TURKEY (REPUBLIC); WILD TYPE;

ALLELES; BIOPTERIN; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TURKEY;

EID: 78651445905     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.11.158     Document Type: Article

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