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 (oculog...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
Témata:
Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241937/
https://ncbi.nlm.nih.gov/pubmed/28100251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0522-z
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