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

✍ Scribed by Sterl, Elisabeth; Paul, Karl; Paschke, Eduard; Zschocke, Johannes; Brunner-Krainz, Michaela; Windisch, Eva; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Karall, Daniela; Scholl-Bürgi, Sabine; Sperl, Wolfgang; Lagler, Florian; Plecko, Barbara

• Book ID: 118796580
• Publisher: Springer
• Year: 2012
• Tongue: English
• Weight: 236 KB
• Volume: 36
• Category: Article
• ISSN: 0141-8955
• DOI: 10.1007/s10545-012-9485-y