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- Alpha1-fetoprotein (AFP) reference values in infants up to 2 years of age.Pediatr. Hematol. Oncol. 1998; 15: 135-142https://doi.org/10.3109/08880019809167228
- Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa‐responsive dystonia.Hum. Mutat. 2014; 35https://doi.org/10.1002/humu.22565
- Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with L-dopa.Rev. Neurol. 1971; 124: 162-166
- Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.Mov. Disord. 2002; 17: 354-359https://doi.org/10.1002/mds.10095
- The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.Lancet Neurol. 2011; 10: 721-733https://doi.org/10.1016/S1474-4422(11)70141-7
- Levodopa-responsive infantile Parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections.Mov. Disord. 2005; 20: 764-767https://doi.org/10.1002/mds.20416
- Tyrosine hydroxylase deficiency with severe clinical course.Mol. Genet. Metabol. 2009; 97: 18-20https://doi.org/10.1016/j.ymgme.2009.02.001
- Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency Type B.Neurology. 2017; 88: 501-502
- Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency.J. Child Neurol. 2011; 26: 179-187https://doi.org/10.1177/0883073810377014
- Tyrosine hydroxylase deficiency causes progressive encephalopathy and Dopa-nonresponsive dystonia.in: Annals of Neurology. 2003https://doi.org/10.1002/ana.10632
- Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.J. Inherit. Metab. Dis. 2000; 23: 819-825https://doi.org/10.1023/A:1026760602577
- Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.Neurology. 2004; 63: 1524-1526