Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies | Orphanet Journal of Rare Diseases | Full Text

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies | Orphanet Journal of Rare Diseases | Full Text

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

Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance ...

Authors: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…

Citation:Orphanet Journal of Rare Diseases 2020 15:126

Content type:Review

Published on: 26 May 2020

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