Approaches for diagnosis and treatment in neurotransmitter disorders of childhood
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s11011-021-00838-w.pdf
Reference17 articles.
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2. Brennenstuhl H, Jung-Klawitter S, Assmann B, Opladen T (2019) Inherited disorders of neurotransmitters: classification and practical approaches for diagnosis and treatment. Neuropediatrics 50(1):2–14
3. Brennenstuhl H et al (2020) High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots. J Inherit Metab Dis 43(3):602–610
4. Hyland K (2003) The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Ann Neurol 54(Suppl 6):S13–S17
5. Friedman J et al (2012) Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol 71(4):520–530
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Bioanalytical validation and clinical application of a liquid chromatography-tandem mass spectrometry method for the quantification of 3-orthomethyldopa, 5-hydroxytryptophan, 5-hydroxyindolacetic acid and homovanillic acid in human cerebrospinal fluid;Journal of Pharmaceutical and Biomedical Analysis;2024-09
2. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes;Molecular Genetics and Metabolism;2023-08
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