Keith Hyland
Affiliations: | Baylor University, Waco, TX |
Area:
Neuroscience BiologyGoogle:
"Keith Hyland"Mean distance: 53433
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Publications
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| Tristán-Noguero A, Borràs E, Molero-Luis M, et al. (2020) Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity. Movement Disorders : Official Journal of the Movement Disorder Society |
| Smith N, Longo N, Levert K, et al. (2019) Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers. Molecular Genetics and Metabolism Reports. 21: 100500 |
| Himmelreich N, Montioli R, Bertoldi M, et al. (2019) Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Molecular Genetics and Metabolism |
| Smith N, Longo N, Levert K, et al. (2019) Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. Molecular Genetics and Metabolism |
| Coughlin CR, Swanson MA, Spector E, et al. (2018) The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. Journal of Inherited Metabolic Disease |
| Shoffner J, Trommer B, Thurm A, et al. (2016) CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology |
| Lim YY, Tapawan SJC, Pang AYW, et al. (2016) Secondary Cerebral Folate Deficiency Comorbidity in Neuronal Ceroid Lipofuscinosis Journal of Pediatric Neurology. 14: 78-81 |
| Ng J, Zhen J, Meyer E, et al. (2014) Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain : a Journal of Neurology. 137: 1107-19 |
| Sparks SE, Wassif CA, Goodwin H, et al. (2014) Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome Journal of Inherited Metabolic Disease. 37: 415-420 |
| Ng J, Li Y, Zhen J, et al. (2013) O1 – 1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism European Journal of Paediatric Neurology. 17: S1 |