Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases-Reference-Cited by-同舟云学术

Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

Published:2021-06 Issue: Volume:27 Page:100744
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Kubaski Francyne,Herbst Zackary M.,Pereira Danilo A.A.,Silva Camilo,Chen Christine,Hwu Paul W.L.,van der Linden Helio,Lourenço Charles M.,Giugliani Roberto

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference22 articles.

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3. Aromatic amino acid decarboxylase deficiency in twins;Hyland;J. Inherit. Metab. Dis.,1990

4. Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots;Chen;Clin. Chim. Acta,2014

5. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis;Hyland;Neurology,1992

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4. Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review;Behavioural Neurology;2022-10-11

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