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Keith Hyland

Showing results (31-40 of 65) with videos related to

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Annals of Clinical and Translational Neurology|August 22, 2018
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypesLaura Zima, Sophia Ceulemans, Gail Reiner, et al.
The Journal of Biological Chemistry|October 8, 2004
Distinct mechanisms of neurodegeneration induced by chronic complex I inhibition in dopaminergic and non-dopaminergic cellsGi-Ryang Kweon, Jeremy D Marks, Robert Krencik, et al.
Annals of Neurology|June 29, 2005
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemiaMichelle K Demos, Paula J Waters, Hilary D Vallance, et al.
Journal of Child Neurology|September 24, 2009
Fever plus mitochondrial disease could be risk factors for autistic regressionJohn Shoffner, Lauren Hyams, Genevieve Niedziela Langley, et al.
Annals of Neurology|March 3, 2004
Levodopa-responsive aromatic L-amino acid decarboxylase deficiencyYuh Terng Chang, Radhakant Sharma, J Lawrence Marsh, et al.
Molecular Genetics and Metabolism|February 16, 2008
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive formsGabriella A Horvath, Sylvia G Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, et al.
Plos Pathogens|March 13, 2015
Impaired systemic tetrahydrobiopterin bioavailability and increased dihydrobiopterin in adult falciparum malaria: association with disease severity, impaired microvascular function and increased endothelial activationTsin W Yeo, Daniel A Lampah, Enny Kenangalem, et al.
Molecular Genetics and Metabolism|February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patientsAida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
Journal of Neurochemistry|April 21, 2010
Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency statesGeorge F G Allen, Viruna Neergheen, Marcus Oppenheim, et al.
Neurology|May 15, 2016
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner, Barbara Trommer, Audrey Thurm, et al.
Pageof 7

Showing results (31-40 of 65) with videos related to

Sort By:
Pageof 7
Annals of Clinical and Translational Neurology|August 22, 2018
Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypesLaura Zima, Sophia Ceulemans, Gail Reiner, et al.
The Journal of Biological Chemistry|October 8, 2004
Distinct mechanisms of neurodegeneration induced by chronic complex I inhibition in dopaminergic and non-dopaminergic cellsGi-Ryang Kweon, Jeremy D Marks, Robert Krencik, et al.
Annals of Neurology|June 29, 2005
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemiaMichelle K Demos, Paula J Waters, Hilary D Vallance, et al.
Journal of Child Neurology|September 24, 2009
Fever plus mitochondrial disease could be risk factors for autistic regressionJohn Shoffner, Lauren Hyams, Genevieve Niedziela Langley, et al.
Annals of Neurology|March 3, 2004
Levodopa-responsive aromatic L-amino acid decarboxylase deficiencyYuh Terng Chang, Radhakant Sharma, J Lawrence Marsh, et al.
Molecular Genetics and Metabolism|February 16, 2008
Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive formsGabriella A Horvath, Sylvia G Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, et al.
Plos Pathogens|March 13, 2015
Impaired systemic tetrahydrobiopterin bioavailability and increased dihydrobiopterin in adult falciparum malaria: association with disease severity, impaired microvascular function and increased endothelial activationTsin W Yeo, Daniel A Lampah, Enny Kenangalem, et al.
Molecular Genetics and Metabolism|February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patientsAida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
Journal of Neurochemistry|April 21, 2010
Pyridoxal 5'-phosphate deficiency causes a loss of aromatic L-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic L-amino acid decarboxylase and vitamin B(6) deficiency statesGeorge F G Allen, Viruna Neergheen, Marcus Oppenheim, et al.
Neurology|May 15, 2016
CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autismJohn Shoffner, Barbara Trommer, Audrey Thurm, et al.
Pageof 7