Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency

Advances in Therapy

Volumn 30, Issue 3, 2013, Pages 212-228

  Cerone, Roberto ^a   Andria, Generoso ^b   Giovannini, Marcello ^c   Leuzzi, Vincenzo ^d   Riva, Enrica ^c   Burlina, Alberto ^e  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e UNIVERSITY HOSPITAL OF PADOVA   (Italy)

Author keywords

Hyperphenylalaninemia; Loading tests; Metabolism; Phenylalanine; Phenylketonuria; Sapropterin dihydrochloride; Tetrahydrobiopterin

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN; TETRAHYDROBIOPTERIN; 5,6,7,8-TETRAHYDROBIOPTERIN; BIOPTERIN; DRUG DERIVATIVE; PHENYLALANINE;

DRUG RESPONSE; DRUG SCREENING; ENZYME BLOOD LEVEL; HUMAN; HYPERPHENYLALANINEMIA; INFANT; NEWBORN; NEWBORN SCREENING; PATIENT ASSESSMENT; PHASE 3 CLINICAL TRIAL (TOPIC); PHENYLKETONURIA; RANDOMIZED CONTROLLED TRIAL (TOPIC); REVIEW; TIME; BLOOD; PATIENT SELECTION; ANALOGS AND DERIVATIVES; PHENYLKETONURIAS;

BIOPTERIN; HUMANS; PATIENT SELECTION; PHENYLALANINE; PHENYLKETONURIAS;

EID: 84891606961     PISSN: 0741238X     EISSN: 18658652     Source Type: Journal    
DOI: 10.1007/s12325-013-0011-x     Document Type: Review

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