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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Autors principals:	Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2021-06-01
Col·lecció:	Molecular Genetics and Metabolism Reports
Matèries:	Monoamine neurotransmitter deficiency Tyrosine hydroxylase deficiency Aromatic L-amino acid decarboxylase deficiency Biomarkers TH deficiency AADC deficiency
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2214426921000562
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