Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

Clinical Biochemistry

Volumn 39, Issue 9, 2006, Pages 893-897

  López Laso, Eduardo ^a   Ormazabal, Aida ^b   Camino, Rafael ^a   Gascón, Francisco J ^c   Ochoa, Juan J ^a   Mateos, María E ^a   Muñoz, María J ^a   Pérez Navero, Juan L ^a   Lao, José I ^d   Vilaseca, María A ^b   Artuch, Rafael ^b  

^a HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c Hospital de Montilla   (Spain)

^d Laboratorio de Analisis Dr Echevarne   (Spain)

Author keywords

Biopterin; Dopa responsive dystonia; Guanosine triphosphate cyclohydrolase 1 deficiency; Neopterin; Oral phenylalanine loading test

Indexed keywords

BIOPTERIN; GLUTAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; NEOPTERIN; PHENYLALANINE; TYROSINE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DYSTONIA; ENZYME DEFICIENCY; EVALUATION; FEMALE; GENE; GTPCH GENE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE 1 DEFICIENCY; HUMAN; INFANT; MALE; PRIORITY JOURNAL; REFERENCE VALUE; RELIABILITY; SYMPTOM;

ADMINISTRATION, ORAL; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; FEMALE; GTP CYCLOHYDROLASE; HUMANS; INFANT; MALE; MIDDLE AGED; PHENYLALANINE; TIME FACTORS;

EID: 33748551727     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2006.03.002     Document Type: Article

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