Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency

Wassenberg, 2017, Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency, Orphanet J. Rare Dis., 12, 10.1186/s13023-016-0522-z

Brun, 2010, Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency, Neurology, 75, 10.1212/WNL.0b013e3181e620ae

Brennenstuhl, 2019, Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment, Neuropediatrics, 50, 10.1055/s-0038-1673630

Hyland, 1992, Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology, Clin. Chem., 38, 10.1093/clinchem/38.12.2405

Chen, 2014, Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots, Clin. Chim. Acta, 431, 10.1016/j.cca.2014.01.034

Chien, 2016, 3-O-methyldopa levels in newborns: result of newborn screening for aromatic l-amino-acid decarboxylase deficiency, Mol. Genet. Metab., 118, 10.1016/j.ymgme.2016.05.011

Brennenstuhl, 2019, High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots, J. Inherit. Metab. Dis.

Hwu, 2012, Gene therapy for aromatic L-amino acid decarboxylase deficiency, Sci. Transl. Med., 4, 10.1126/scitranslmed.3003640

Kojima, 2019, Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency, Brain, 142, 10.1093/brain/awy331

Tseng, 2019, Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency, Ann. Neurol., 85, 10.1002/ana.25467

Hoffmann, 2003

Korver-Keularts, 2018, Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism, J. Inherit. Metab. Dis., 41, 10.1007/s10545-017-0129-0

Hoffmann, 1989, Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis, Clin. Chem., 35, 10.1093/clinchem/35.4.587

Sweetman, 1991

Monostori, 2019, Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation, PLoS One, 14, 10.1371/journal.pone.0212458

Wassenberg, 2010, Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox, Mol. Genet. Metab., 101, 10.1016/j.ymgme.2010.08.003

Allenbrand, 2010, Quantitation of homovanillic acid (HVA) and vanillylmandelic acid (VMA) in urine using gas chromatography-mass spectrometry (GC/MS), Methods Mol. Biol., 603, 10.1007/978-1-60761-459-3_24

Fauler, 1997, Determination of homovanillic acid and vanillylmandelic acid in neuroblastoma screening by stable isotope dilution GC-MS, J. Mass Spectrom., 32, 10.1002/(SICI)1096-9888(199705)32:5<507::AID-JMS503>3.0.CO;2-9

Mills, 2005, Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase, Hum. Mol. Genet., 14, 10.1093/hmg/ddi120