Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency and tyrosine hydroxylase (TH) deficiency are rare inherited disorders of monoamine neurotransmitter synthesis which are typically diagnosed using cerebrospinal fluid examination of monoamine neurotransmitter metabolites. Until now, it...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8093927/
https://ncbi.nlm.nih.gov/pubmed/33996491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100762
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