13023_2020_1379_MOESM2_ESM.tif (69.03 kB)

Additional file 2 of Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

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posted on 2020-05-27, 03:35 authored by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann

Additional file 2: Figure S2. Flow chart showing the systematic literature search, and number and type of included sources.

Funding

Dietmar Hopp Stiftung NIHR Professorship and the Sir Jules Thorn Award for Biomedical research

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Keywords

Tetrahydrobiopterin deficiency BH4 Neurotransmitter Guanosine triphosphate cyclohydrolase deficiency 6-pyruvoyltetrahydropterin synthase deficiency Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency Dihydropteridine reductase deficiency Hyperphenylalaninemia iNTD Consensus guidelines SIGN

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