<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency"^^ . "Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms. In this consensus guideline, representatives of the International Working Group on Neurotransmitter Related Disorders (iNTD) and patient representatives evaluated all available evidence for diagnosis and treatment of AADCD and made recommendations using SIGN and GRADE methodology. In the face of limited definitive evidence, we constructed practical recommendations on clinical diagnosis, laboratory diagnosis, imaging and electroencephalograpy, medical treatments and non-medical treatments. Furthermore, we identified topics for further research. We believe this guideline will improve the care for AADCD patients around the world whilst promoting general awareness of this rare disease."^^ . "2017" . . "12" . "12" . . "BioMed Central"^^ . . . "Orphanet Journal of Rare Diseases"^^ . . . "17501172" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "Rafael"^^ . "Artuch"^^ . "Rafael Artuch"^^ . . "Roser"^^ . "Pons"^^ . "Roser Pons"^^ . . "Simon"^^ . "Heales"^^ . "Simon Heales"^^ . . "Tessa"^^ . "Wassenberg"^^ . "Tessa Wassenberg"^^ . . "Angeles"^^ . "Garcia-Cazorla"^^ . "Angeles Garcia-Cazorla"^^ . . "Birgit"^^ . "Assmann"^^ . "Birgit Assmann"^^ . . "Georg F."^^ . "Hoffmann"^^ . "Georg F. Hoffmann"^^ . . "Vincenco"^^ . "Leuzzi"^^ . "Vincenco Leuzzi"^^ . . "Marta"^^ . "Molero-Luis"^^ . "Marta Molero-Luis"^^ . . "Phillip L."^^ . "Pearl"^^ . "Phillip L. Pearl"^^ . . "Michèl"^^ . "Willemsen"^^ . "Michèl Willemsen"^^ . . "Kathrin"^^ . "Jeltsch"^^ . "Kathrin Jeltsch"^^ . . "Nenad"^^ . "Blau"^^ . "Nenad Blau"^^ . . "Manju A."^^ . "Kurian"^^ . "Manju A. Kurian"^^ . . "Thomas"^^ . "Opladen"^^ . "Thomas Opladen"^^ . . "Wang Tso"^^ . "Lee"^^ . "Wang Tso Lee"^^ . . "Toni S."^^ . "Pearson"^^ . "Toni S. Pearson"^^ . . "Mario"^^ . "Mastrangelo"^^ . "Mario Mastrangelo"^^ . . "Lisa"^^ . "Flint"^^ . "Lisa Flint"^^ . . "Marcel"^^ . "Verbeek"^^ . "Marcel Verbeek"^^ . . . . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (PDF)"^^ . . . "13023_2016_Article_522.pdf"^^ . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (Other)"^^ . . . . . . "lightbox.jpg"^^ . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (Other)"^^ . . . . . . "preview.jpg"^^ . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (Other)"^^ . . . . . . "medium.jpg"^^ . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (Other)"^^ . . . . . . "small.jpg"^^ . . . "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency (Other)"^^ . . . . . . "indexcodes.txt"^^ . . "HTML Summary of #22508 \n\nConsensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency\n\n" . "text/html" . . . "610 Medizin"@de . "610 Medical sciences Medicine"@en . .