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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Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Tessa Wassenberg, Ben P.H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen, Marcel M. Verbeek
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2021-06-01
Σειρά:	Molecular Genetics and Metabolism Reports
Θέματα:	Monoamine neurotransmitter deficiency Tyrosine hydroxylase deficiency Aromatic L-amino acid decarboxylase deficiency Biomarkers TH deficiency AADC deficiency
Διαθέσιμο Online:	http://www.sciencedirect.com/science/article/pii/S2214426921000562
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