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Neurology
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December 13, 2006
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
Jennifer Friedman, Keith Hyland, Nenad Blau, et al.
Sleep Medicine
|
March 28, 2006
Circadian changes in CSF dopaminergic measures in restless legs syndrome
Christopher J Earley, Keith Hyland, Richard P Allen
JIMD Reports
|
February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
Curtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
JIMD Reports
|
February 23, 2013
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy
Ronald 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 volunteers
Neil Smith, Nicola Longo, Keith Levert, et al.
Pediatric Neurology
|
February 20, 2013
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid
Monisha 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 volunteers
Neil 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 synthesis
Richard 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 seizures
Foong-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 outcomes
Kathryn J Swoboda, J Philip Saul, Catherine E McKenna, et al.
Page
of 7
Search research articles
Search
Showing results (11-20 of 65) with videos related to
Sort By:
Page
of 7
Neurology
|
December 13, 2006
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency
Jennifer Friedman, Keith Hyland, Nenad Blau, et al.
Sleep Medicine
|
March 28, 2006
Circadian changes in CSF dopaminergic measures in restless legs syndrome
Christopher J Earley, Keith Hyland, Richard P Allen
JIMD Reports
|
February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
Curtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
JIMD Reports
|
February 23, 2013
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy
Ronald 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 volunteers
Neil Smith, Nicola Longo, Keith Levert, et al.
Pediatric Neurology
|
February 20, 2013
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid
Monisha 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 volunteers
Neil 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 synthesis
Richard 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 seizures
Foong-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 outcomes
Kathryn J Swoboda, J Philip Saul, Catherine E McKenna, et al.
Page
of 7