Tetrahydrobiopterin loading test in differential diagnosis among hyperphenylalaninemia patients

Chinese Journal of Medical Genetics

Volumn 22, Issue 4, 2005, Pages 438-440

  Zhang, Zhi Xin ^a   Ye, Jun ^a   Qiu, Wen Juan ^a   Han, Lian Shu ^a   Gu, Xue Fan ^a  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Hyperphenylalaninemia; Phenylketonuria; Tetrahydrobiopterin deficiency; Tetrahydrobiopterin loading test

Indexed keywords

DIHYDROPTERIDINE REDUCTASE; PHENYLALANINE 4 MONOOXYGENASE; PTERIN; TETRAHYDROBIOPTERIN;

ARTICLE; BLOOD FILTER; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPERPHENYLALANINEMIA; INFANT; LOADING TEST; MAJOR CLINICAL STUDY; MALE; NEWBORN SCREENING; PHENYLKETONURIA; URINE LEVEL;

BIOPTERIN; DIAGNOSIS, DIFFERENTIAL; DIHYDROPTERIDINE REDUCTASE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MASS SCREENING; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; SENSITIVITY AND SPECIFICITY;

EID: 23844464061     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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