Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

BACKGROUND: Tetrahydrobiopterin (BH(4)) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH(4) biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the fir...

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Опубликовано в: :Orphanet J Rare Dis
Главные авторы: Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Review
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7251883/
https://ncbi.nlm.nih.gov/pubmed/32456656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01379-8
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