Challenges and pitfalls in the management of phenylketonuria

Pediatrics

Volumn 126, Issue 2, 2010, Pages 333-341

  Feillet, François ^a   Van Spronsen, Francjan J ^b   MacDonald, Anita ^c   Trefz, Friedrich K ^d   Demirkol, Mübeccel ^e   Giovannini, Marcello ^f   Bélanger Quintana, Amaya ^g   Blau, Nenad ^h,i  

^a UNIVERSITÉ DE LORRAINE   (France)

^b UNIVERSITY OF GRONINGEN   (Netherlands)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d Klinik fur Kinder und Jugendmedizin Reutlingen   (Germany)

^e ISTANBUL UNIVERSITY   (Turkey)

^f UNIVERSITY OF MILAN   (Italy)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

ⁱ UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Blood brain barrier; Cognitive function; Hyperphenylalaninemia; Optimal and consistent care; Phenylalanine; PKU; Sapropterin; Tetrahydrobiopterin

Indexed keywords

GLYCOPROTEIN; PHENYLALANINE; PHENYLALANINE AMMONIA LYASE; SAPROPTERIN; TETRAHYDROBIOPTERIN;

AGGRESSION; AMINO ACID BLOOD LEVEL; ARITHMETIC; AUTOMUTILATION; BRAIN FUNCTION; CHILD; CHILD GROWTH; COGNITION; COMMUNICATION DISORDER; CONSENSUS; DEPRESSION; DEVELOPMENTAL DISORDER; DIET THERAPY; DISEASE CLASSIFICATION; DRUG FORMULATION; EMOTIONAL DISORDER; FACE DEFORMITY; FIRST TRIMESTER PREGNANCY; GENE MUTATION; GENE THERAPY; GENOTYPE; GROUPS BY AGE; HEALTH CARE COST; HUMAN; HYPERACTIVITY; HYPERPHENYLALANINEMIA; HYPERREFLEXIA; INTELLIGENCE QUOTIENT; LANGUAGE DEVELOPMENT; LOW BIRTH WEIGHT; METABOLIC REGULATION; MICROCEPHALY; MYELIN DEFICIENCY; NEWBORN SCREENING; PATTERN RECOGNITION; PHENYLKETONURIA; PRIORITY JOURNAL; PROTEIN RESTRICTION; REVIEW; SOCIAL ISOLATION; TREATMENT RESPONSE; TREMOR; VISUOMOTOR COORDINATION; WORKING MEMORY;

BIOPTERIN; BRAIN; COGNITION DISORDERS; CONSENSUS; GROWTH DISORDERS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; NEUROPSYCHOLOGICAL TESTS; PHENYLALANINE; PHENYLKETONURIAS; TREATMENT FAILURE;

EID: 77955492904     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2009-3584     Document Type: Review

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