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Keith Hyland

Showing results (11-20 of 65) with videos related to

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Neurology|December 13, 2006
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiencyJennifer Friedman, Keith Hyland, Nenad Blau, et al.
Sleep Medicine|March 28, 2006
Circadian changes in CSF dopaminergic measures in restless legs syndromeChristopher J Earley, Keith Hyland, Richard P Allen
JIMD Reports|February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case reportCurtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
JIMD Reports|February 23, 2013
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophyRonald Thibert, Keith Hyland, Joe Chiles, et al.
Molecular Genetics and Metabolism Reports|August 28, 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 volunteersNeil Smith, Nicola Longo, Keith Levert, et al.
Pediatric Neurology|February 20, 2013
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluidMonisha Goyal, Pierre R Fequiere, Tony M McGrath, et al.
Molecular Genetics and Metabolism|March 30, 2019
Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteersNeil Smith, Nicola Longo, Keith Levert, et al.
Sleep Medicine|January 30, 2008
Abnormally increased CSF 3-Ortho-methyldopa (3-OMD) in untreated restless legs syndrome (RLS) patients indicates more severe disease and possibly abnormally increased dopamine synthesisRichard P Allen, James R Connor, Keith Hyland, et al.
Journal of Child Neurology|September 29, 2006
Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizuresFoong-Yi Lin, Generoso G Gascon, Keith Hyland, et al.
Annals of Neurology|August 2, 2003
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomesKathryn J Swoboda, J Philip Saul, Catherine E McKenna, et al.
Pageof 7

Showing results (11-20 of 65) with videos related to

Sort By:
Pageof 7
Neurology|December 13, 2006
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiencyJennifer Friedman, Keith Hyland, Nenad Blau, et al.
Sleep Medicine|March 28, 2006
Circadian changes in CSF dopaminergic measures in restless legs syndromeChristopher J Earley, Keith Hyland, Richard P Allen
JIMD Reports|February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case reportCurtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
JIMD Reports|February 23, 2013
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophyRonald Thibert, Keith Hyland, Joe Chiles, et al.
Molecular Genetics and Metabolism Reports|August 28, 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 volunteersNeil Smith, Nicola Longo, Keith Levert, et al.
Pediatric Neurology|February 20, 2013
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluidMonisha Goyal, Pierre R Fequiere, Tony M McGrath, et al.
Molecular Genetics and Metabolism|March 30, 2019
Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteersNeil Smith, Nicola Longo, Keith Levert, et al.
Sleep Medicine|January 30, 2008
Abnormally increased CSF 3-Ortho-methyldopa (3-OMD) in untreated restless legs syndrome (RLS) patients indicates more severe disease and possibly abnormally increased dopamine synthesisRichard P Allen, James R Connor, Keith Hyland, et al.
Journal of Child Neurology|September 29, 2006
Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizuresFoong-Yi Lin, Generoso G Gascon, Keith Hyland, et al.
Annals of Neurology|August 2, 2003
Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomesKathryn J Swoboda, J Philip Saul, Catherine E McKenna, et al.
Pageof 7