Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test

Journal of Inherited Metabolic Disease

Volumn 32, Issue 4, 2009, Pages 506-513

  Langenbeck, Ulrich ^a   Burgard, P ^b   Wendel, U ^c   Lindner, M ^b   Zschocke, J ^d  

^a UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

AMINO ACID METABOLISM; AMINO ACID SYNTHESIS; AMINO TERMINAL SEQUENCE; ARTICLE; ENZYME INDUCTION; ENZYME KINETICS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LOADING TEST; MUTATIONAL ANALYSIS; PHENOTYPE; PHENYLKETONURIA;

DIAGNOSTIC TECHNIQUES AND PROCEDURES; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENOTYPE; HALF-LIFE; HUMANS; INFANT; KINETICS; MODELS, BIOLOGICAL; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PROTEINS;

EID: 69449093796     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-1152-6     Document Type: Article

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