Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: Comprehensive results from molecular analysis in 147 patients

Journal of Inherited Metabolic Disease

Volumn 36, Issue 1, 2013, Pages 7-13

  Sterl, Elisabeth ^a   Paul, Karl ^a   Paschke, Eduard ^a   Zschocke, Johannes ^b   Brunner Krainz, Michaela ^a   Windisch, Eva ^a   Konstantopoulou, Vassiliki ^c   Möslinger, Dorothea ^c   Karall, Daniela ^b   Scholl Bürgi, Sabine ^b   Sperl, Wolfgang ^d   Lagler, Florian ^d   Plecko, Barbara ^a,e  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d PARACELSUS MEDICAL UNIVERSITY   (Austria)

^e UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE; TETRAHYDROBIOPTERIN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUSTRIA; CONTROLLED STUDY; DNA POLYMORPHISM; DRUG RESPONSE; GENE; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PAH GENE; PHARMACOGENOMICS; PHENOTYPE; PHENYLKETONURIA; PREDICTION;

ALLELES; AUSTRIA; BIOPTERIN; DNA; GENOTYPE; HUMANS; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; PREVALENCE;

EID: 84872612797     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9485-y     Document Type: Article

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