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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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Wassenberg, Tessa, Geurtz, Ben P.H., Monnens, Leo, Wevers, Ron A., Willemsen, Michèl A., Verbeek, Marcel M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2021
Témata:
Research Paper
On-line přístup: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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