Different presentations of late-detected phenylketonuria in two brothers with the same R408W/RIIIX genotype in the PAH gene

Journal of Intellectual Disability Research

Volumn 47, Issue 2, 2003, Pages 146-152

  Gizewska, Maria ^a   Cabalska, B ^b   Cyrytowski, L ^a   Nowacki, P ^a   Zekanowski, C ^b   Walczak, M ^a   Jozwiak I ^a   Koziarska, D ^a  

^a POMERANIAN MEDICAL UNIVERSITY   (Poland)

^b INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

Blood brain barrier; Late detected phenylketonuria; Magnetic resonance imaging; Phenotype genotype correlation; Phenylketonuria

Indexed keywords

4 HYDROXYPHENYLACETIC ACID; AMINO ACID; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; PHENYLPYRUVIC ACID; PREKUNIL;

ADULT; AGE; ARTICLE; BLOOD BRAIN BARRIER; BRAIN SCINTISCANNING; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DEMYELINATION; DIET SUPPLEMENTATION; DIET THERAPY; DISEASE COURSE; DISEASE SEVERITY; ENZYME BLOOD LEVEL; FAMILY HISTORY; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLIGENCE QUOTIENT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENYLKETONURIA; SIBLING; TREATMENT OUTCOME; WHITE MATTER;

ADULT; BLOOD-BRAIN BARRIER; BRAIN; CHILD, PRESCHOOL; GENOTYPE; HUMANS; INFANT; INTELLIGENCE; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; TIME FACTORS;

EID: 0347296111     PISSN: 09642633     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2788.2003.00449.x     Document Type: Article

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