Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment

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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Bibliographic Details
Main Authors: Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Monoamine neurotransmitter deficiency
Tyrosine hydroxylase deficiency
Aromatic L-amino acid decarboxylase deficiency
Biomarkers
TH deficiency
AADC deficiency
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000562

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http://www.sciencedirect.com/science/article/pii/S2214426921000562

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