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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Genet Metab Rep
Main Authors: Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2021
Teme:
Research Paper
Online dostop: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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