Phenylalanine hydroxylase deficiency

Genetics in Medicine

Volumn 13, Issue 8, 2011, Pages 697-707

  Mitchell, John J ^a,b,c   Trakadis, Yannis J ^a   Scriver, Charles R ^a,b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

hyperphenylalaninemia; PAH deficiency; phenylketonuria

Indexed keywords

ASPARTAME; GENE PRODUCT; GLYCOPROTEIN; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PHENYLALANINE AMMONIA LYASE; TETRAHYDROBIOPTERIN; TYROSINE;

ADOLESCENCE; ADULTHOOD; AMINO ACID BLOOD LEVEL; BLOOD ANALYSIS; BREAST FEEDING; CARBOHYDRATE INTAKE; CHILDHOOD; CLINICAL FEATURE; COGNITIVE DEFECT; CYANOCOBALAMIN DEFICIENCY; DIET RESTRICTION; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; FAT INTAKE; FETUS DEVELOPMENT; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GUTHRIE MICROBIAL INHIBITION ASSAY; HUMAN; HYPERPHENYLALANINEMIA; INFANCY; INTELLECTUAL IMPAIRMENT; ISOMER; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NEWBORN SCREENING; NUTRITIONAL DEFICIENCY; NUTRITIONAL INTOLERANCE; PHENYLALANINE HYDROXYLASE DEFICIENCY; PHENYLKETONURIA; PLURIPOTENT STEM CELL; PRACTICE GUIDELINE; PREGNANT WOMAN; PREVALENCE; PROTEIN INTAKE; PROTEIN RESTRICTION; PSYCHOSOCIAL CARE; REVIEW; RISK ASSESSMENT; RISK REDUCTION; SCREENING TEST; SEQUENCE ANALYSIS; SOMATIC GENE THERAPY; STEM CELL TRANSPLANTATION; TERATOGENESIS; TREATMENT OUTCOME; TREATMENT REFUSAL;

ANIMALS; CLINICAL TRIALS AS TOPIC; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; MUTATION; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 80051784016     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3182141b48     Document Type: Review

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