In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: Diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Pediatric Research

Volumn 56, Issue 5, 2004, Pages 714-719

  Okano, Yoshiyuki ^a   Hase, Yutaka ^b   Kawajiri, Mie ^a,e   Nishi, Yasuaki ^a   Inui, Koji ^c   Sakai, Norio ^c   Tanaka, Yoko ^d   Takatori, Kazuhiko ^e   Kajiwara, Masahiro ^a,e   Yamano, Tsunekazu ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Nishinari Ward Pub Hlth/Welf Ctr   (Japan)

^c OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d TOKYO DENTAL COLLEGE   (Japan)

^e MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARBON DIOXIDE; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; ASIAN; BREATH ANALYSIS; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CUMULATIVE RECOVERY RATE; DIAGNOSTIC VALUE; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENE DOSAGE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERPHENYLALANINEMIA; JAPANESE; MALE; NON INVASIVE MEASUREMENT; PHENYLALANINE BREATH TEST; PHENYLKETONURIA; PRIORITY JOURNAL; PRODUCT RECOVERY; QUANTITATIVE ASSAY; TETRAHYDROBIOPTERIN RESPONSIVE PHENYLALANINE HYDROXYLASE DEFICIENCY;

ADOLESCENT; ADULT; BIOPTERIN; BREATH TESTS; CARBON DIOXIDE; CARBON ISOTOPES; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 6344293954     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000141520.06524.51     Document Type: Article

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