QR kód

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...

Celý popis

Uloženo v:
Hlavní autoři: Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2021-06-01
Edice:Molecular Genetics and Metabolism Reports
Témata:
Monoamine neurotransmitter deficiency
Tyrosine hydroxylase deficiency
Aromatic L-amino acid decarboxylase deficiency
Biomarkers
TH deficiency
AADC deficiency
On-line přístup:http://www.sciencedirect.com/science/article/pii/S2214426921000562
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Podobné jednotky