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...
Kaydedildi:
| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Elsevier
2021-06-01
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| Seri Bilgileri: | Molecular Genetics and Metabolism Reports |
| Konular: | |
| Online Erişim: | http://www.sciencedirect.com/science/article/pii/S2214426921000562 |
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