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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 |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2021
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| Témata: | |
| 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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