Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients

Journal of Inherited Metabolic Disease

Volumn 32, Issue 1, 2009, Pages 10-21

  Dobrowolski, Steven F ^a   Pey, A L ^b   Koch, R ^c   Levy, H ^d   Ellingson, C C ^a   Naylor, E W ^e   Martinez, A ^b  

^a Idaho Technology Inc   (United States)

^b UNIVERSITY OF BERGEN   (Norway)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ARTICLE; BINDING AFFINITY; BLOOD CHEMISTRY; CATALYSIS; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE SEVERITY; DOSE RESPONSE; DRUG DOSE INCREASE; DRUG DOSE TITRATION; DRUG MECHANISM; DRUG PROTEIN BINDING; ENZYME ACTIVITY; ENZYME BINDING; ENZYME CHEMISTRY; ENZYME SPECIFICITY; ENZYME STABILITY; ENZYME SUBSTRATE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPERPHENYLALANINEMIA; MUTATIONAL ANALYSIS; PHARMACOGENOMICS; WILD TYPE;

ADULT; BIOPTERIN; CIRCULAR DICHROISM; ESCHERICHIA COLI; FLUORESCENCE; HUMANS; INFANT, NEWBORN; KINETICS; MUTAGENESIS, SITE-DIRECTED; MUTANT PROTEINS; MUTATION, MISSENSE; ORGANISMS, GENETICALLY MODIFIED; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STABILITY; YOUNG ADULT;

EID: 59749088730     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0942-6     Document Type: Article

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