Publications by authors named "Keith Hyland"

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Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome.
Prashanth S Ramachandran, Benjamin W Okaty, Molly Riehs, Anne Wapniarski, Daniel Hershey, Keith Hyland

JAMA Neurol· March 2024

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Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.
Marjolaine Champagne, Gabriella A Horvath, Sébastien Perreault, Julie Gauthier, Keith Hyland

JIMD Rep· September 2022

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Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria.
Matthew P Rubach, Jackson P Mukemba, Salvatore M Florence, Bert K Lopansri, Keith Hyland

J Infect Dis· October 2021

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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Udo Fh Engelke, Rianne E van Outersterp, Jona Merx, Fred Amg van Geenen, Arno van Rooij, Keith Hyland

J Clin Invest· August 2021

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Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Keith Hyland

Mol Genet Metab· July 2021

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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.
Toni S Pearson, Nalin Gupta, Waldy San Sebastian, Jill Imamura-Ching, Amy Viehoever, Keith Hyland

Nat Commun· July 2021

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Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, Tessa Wassenberg, Tessa Peters, Keith Hyland

Mov Disord· March 2021

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Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Keith Hyland, Michael Reott

Pediatr Neurol· May 2020

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Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
Berrin Monteleone, Keith Hyland

BMC Neurol· January 2020

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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, Keith Hyland, Nenad Blau

Mol Genet Metab Rep· December 2019

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Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
Michael F Wempe, Amit Kumar, Vijay Kumar, Yu J Choi, Michael A Swanson, Keith Hyland

J Inherit Metab Dis· May 2019

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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Keith Hyland

Mol Genet Metab· May 2019

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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, Keith Hyland, Nenad Blau

Mol Genet Metab· April 2019

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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Curtis R Coughlin, Michael A Swanson, Elaine Spector, Naomi J L Meeks, Kathryn E Kronquist, Keith Hyland

J Inherit Metab Dis· March 2019

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Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.
Laura Zima, Sophia Ceulemans, Gail Reiner, Serena Galosi, Dillon Chen, Keith Hyland

Ann Clin Transl Neurol· August 2018

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CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism.
John Shoffner, Barbara Trommer, Audrey Thurm, Cristan Farmer, William A Langley, Keith Hyland

Neurology· June 2016

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Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, Pierre Allard, Catherine Brunel-Guitton, Keith Hyland

JIMD Rep· July 2015

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Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria: association with disease severity.
Matthew P Rubach, Jackson Mukemba, Salvatore Florence, Bert K Lopansri, Keith Hyland

PLoS Pathog· March 2015

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Impaired systemic tetrahydrobiopterin bioavailability and increased dihydrobiopterin in adult falciparum malaria: association with disease severity, impaired microvascular function and increased endothelial activation.
Tsin W Yeo, Daniel A Lampah, Enny Kenangalem, Emiliana Tjitra, Ric N Price, Keith Hyland

PLoS Pathog· March 2015

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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
Saadet Mercimek-Mahmutoglu, Sarah Sidky, Keith Hyland, Jaina Patel, Elizabeth J Donner

Orphanet J Rare Dis· February 2015

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Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.
Saadet Mercimek-Mahmutoglu, Dawn Cordeiro, Vivian Cruz, Keith Hyland, Eduard A Struys

Eur J Paediatr Neurol· November 2014

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Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
Kristin E D'Aco, David Bearden, David Watkins, Keith Hyland, David S Rosenblatt

Pediatr Neurol· August 2014

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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Joanne Ng, Juan Zhen, Esther Meyer, Kevin Erreger, Yan Li, Keith Hyland

Brain· April 2014

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