TY  - JOUR
AU  - Opladen, Thomas
AU  - López-Laso, Eduardo
AU  - Cortès-Saladelafont, Elisenda
AU  - Pearson, Toni S.
AU  - Sivri, H. Serap
AU  - Yildiz, Yilmaz
AU  - Assmann, Birgit
AU  - Kurian, Manju A.
AU  - Leuzzi, Vincenzo
AU  - Heales, Simon
AU  - Pope, Simon
AU  - Porta, Francesco
AU  - García-Cazorla, Angeles
AU  - Honzík, Tomás
AU  - Pons, Roser
AU  - Regal, Luc
AU  - Goez, Helly
AU  - Artuch, Rafael
AU  - Hoffmann, Georg F.
AU  - Horvath, Gabriella
AU  - Thöny, Beat
AU  - Scholl-Bürgi, Sabine
AU  - Burlina, Alberto
AU  - Verbeek, Marcel M.
AU  - Mastrangelo, Mario
AU  - Friedman, Jennifer
AU  - Wassenberg, Tessa
AU  - Jeltsch, Kathrin
AU  - Kulhánek, Jan
AU  - Kuseyri Hübschmann, Oya
PY  - 2020
DO  - 10.1186/s13023-020-01379-8
UR  - http://hdl.handle.net/10668/3820
T2  - Orphanet Journal of Rare Diseases
AB  - BackgroundTetrahydrobiopterin (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 of BH4 biosynthesis or...
LA  - en
PB  - BioMed Central, Springer Nature
KW  - Tetrahydrobiopterin deficiency
KW  - BH4
KW  - Neurotransmitter
KW  - Guanosine triphosphate cyclohydrolase deficiency
KW  - 6- pyruvoyltetrahydropterin synthase deficiency
KW  - Sepiapterin reductase deficiency
KW  - Pterin-4-alpha-carbinolamine dehydratase deficiency
KW  - Dihydropteridine reductase deficiency
KW  - Hyperphenylalaninemia
KW  - iNTD
KW  - Consensus guidelines
KW  - SIGN
KW  - Fenilcetonurias
KW  - Neurotransmisores
KW  - Consenso
KW  - Guía
KW  - Medical Subject Headings::Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 2-Ring::Pteridines::Pterins::Biopterin
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Dyskinesias::Dystonia
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors
KW  - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Metabolism, Inborn Errors::Brain Diseases, Metabolic, Inborn::Phenylketonurias
KW  - Medical Subject Headings::Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents
KW  - Medical Subject Headings::Psychiatry and Psychology::Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus
KW  - Medical Subject Headings::Publication Type::Publication Formats::Guideline
TI  - Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
TY  - review article
ER  -