Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia

Molecular Genetics and Metabolism

Volumn 108, Issue 3, 2013, Pages 195-197

  Opladen, Thomas ^a   Hoffmann, Georg F ^a   Kühn, Andrea A ^b   Blau, Nenad ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

DRD; Kuvan; Sapropterin; Tetrahydrobiopterin (BH4)

Indexed keywords

BIOPTERIN; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; SAPROPTERIN; SEPIAPTERIN REDUCTASE; TETRAHYDROBIOPTERIN; TYROSINE;

AMINO ACID ANALYSIS; AMINO ACID DEFICIENCY; ARTICLE; CONCENTRATION RESPONSE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DOPA RESPONSIVE DYSTONIA; DYSTONIA; ENZYME DEFICIENCY; HUMAN; HYDROXYLATION; LOADING DRUG DOSE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

ADMINISTRATION, ORAL; ADULT; BIOPTERIN; DIAGNOSIS, DIFFERENTIAL; DYSTONIA; DYSTONIC DISORDERS; FEMALE; HUMANS; LEVODOPA; METABOLISM, INBORN ERRORS; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PSYCHOMOTOR DISORDERS; TYROSINE;

EID: 84874019795     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.01.001     Document Type: Article

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