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Keith Hyland

nih national institute of mental health (nimh)

44H-index
158Paper Count
5.4KCitation Count
Published Papers 45
Publication Date
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
err2026-03-25
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errOAAI
errWolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F.; Sabaii, Marla; Huryn, Laryssa A.; Zein, Wadih M.; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H.; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C.; Gahl, William A.; Adams, David R.; Wolfe, Lynne
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Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior
err2022-11-04
err9
errOAAI
errPan, Lisa A.; Segreti, Anna Maria; Wrobleski, Joseph; Shaw, Annie; Hyland, Keith; Hughes, Marion; Finegold, David N.; Naviaux, Robert K.; Brent, David A.; Vockley, Jerry; Peters, David G.
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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook (vol 127, pg 12, 2019)
err2021-09-01
err4
PREAI
errHimmelreich, Nastassja; Montioli, Riccardo; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Gemperle, Corinne; Berner, Todd; Hyland, Keith; Thoeny, Beat; Hoffmann, Georg F.; Voltattorni, Carla B.; Blau, Nenad
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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
err2021-08-02
err25
errOAAI
errEngelke, Udo F. H.; van Outersterp, Rianne E.; Merx, Jona; van Geenen, Fred A. M. G.; van Rooij, Arno; Berden, Giel; Huigen, Marleen C. D. G.; Kluijtmans, Leo A. J.; Peters, Tessa M. A.; Al-Shekaili, Hilal H.; Leavitt, Blair R.; de Vrieze, Erik; Broekman, Sanne; van Wijk, Erwin; Tseng, Laura A.; Kulkarni, Purva; Rutjes, Floris P. J. T.; Mecinovic, Jasmin; Struys, Eduard A.; Jansen, Laura A.; Gospe, Sidney M., Jr.; Mercimek-Andrews, Saadet; Hyland, Keith; Willemsen, Michel A. A. P.; Bok, Levinus A.; van Karnebeek, Clara D. M.; Wevers, Ron A.; Boltje, Thomas J.; Oomens, Jos; Martens, Jonathan; Coene, Karlien L. M.
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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
err2021-07-12
err94
errOAAI
errPearson, Toni S.; Gupta, Nalin; San Sebastian, Waldy; Imamura-Ching, Jill; Viehoever, Amy; Grijalvo-Perez, Ana; Fay, Alex J.; Seth, Neha; Lundy, Shannon M.; Seo, Youngho; Pampaloni, Miguel; Hyland, Keith; Smith, Erin; Barbosa, Gardenia de Oliveira; Heathcock, Jill C.; Minnema, Amy; Lonser, Russell; Elder, J. Bradley; Leonard, Jeffrey; Larson, Paul; Bankiewicz, Krystof S.
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Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria
err2021-02-22
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errOAAI
errRubach, Matthew P.; Mukemba, Jackson P.; Florence, Salvatore M.; Lopansri, Bert K.; Hyland, Keith; Simmons, Ryan A.; Langelier, Charles; Nakielny, Sara; DeRisi, Joseph L.; Yeo, Tsin W.; Anstey, Nicholas M.; Weinberg, J. Brice; Mwaikambo, Esther D.; Granger, Donald L.
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Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
err2020-11-05
err8
PREAI
errTrislan-Noguero, Alba; Borras, Eva; Molero-Luis, Marta; Wassenberg, Tessa; Peters, Tessa; Verbeek, Marcel M.; Willemsen, Michel; Opladen, Thomas; Jeltsch, Kathrin; Pons, Roser; Thony, Beat; Horvath, Gabriella; Yapici, Zuhal; Friedman, Jennifer; Hyland, Keith; Agosta, Guillermo E.; Lopez-Laso, Eduardo; Artuch, Rafael; Sabido, Eduard; Garcia-Cazorla, Angels
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Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
err2019-05-01
err67
PREAI
errHimmelreich, Nastassja; Montioli, Riccardo; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Gemperle, Corinne; Berner, Todd; Hyland, Keith; Thony, Beat; Hoffmann, Georg F.; Voltattorni, Carla B.; Blau, Nenad
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Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes
err2018-07-17
err10
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errZima, Laura; Ceulemans, Sophia; Reiner, Gail; Galosi, Serena; Chen, Dillon; Sahagian, Michelle; Haas, Richard H.; Hyland, Keith; Friedman, Jennifer
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Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior
err2017-01-01
err58
errOAAI
errPan, Lisa A.; Martin, Petra; Zimmer, Thomas; Segreti, Anna Maria; Kassiff, Sivan; McKain, Brian W.; Baca, Cynthia A.; Rengasamy, Manivel; Hyland, Keith; Walano, Nicolette; Steinfeld, Robert; Hughes, Marion; Dobrowolski, Steven K.; Pasquino, Michele; Diler, Rasim; Perel, James; Finegold, David N.; Peters, David G.; Naviaux, Robert K.; Brent, David A.; Vockley, Jerry
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CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism
err2016-06-14
err22
errOAAI
errShoffner, John; Trommer, Barbara; Thurm, Audrey; Farmer, Cristan; Langley, William A., III; Soskey, Laura; Rodriguez, Aldeboran N.; D'Souza, Precilla; Spence, Sarah J.; Hyland, Keith; Swedo, Susan E.
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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
err2015-03-12
err38
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errYeo, Tsin W.; Lampah, Daniel A.; Kenangalem, Enny; Tjitra, Emiliana; Price, Ric N.; Weinberg, J. Brice; Hyland, Keith; Granger, Donald L.; Anstey, Nicholas M.
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Impaired Systemic Tetrahydrobiopterin Bioavailability and Increased Oxidized Biopterins in Pediatric Falciparum Malaria: Association with Disease Severity
err2015-03-12
err33
errOAAI
errRubach, Matthew P.; Mukemba, Jackson; Florence, Salvatore; Lopansri, Bert K.; Hyland, Keith; Volkheimer, Alicia D.; Yeo, Tsin W.; Anstey, Nicholas M.; Weinberg, J. Brice; Mwaikambo, Esther D.; Granger, Donald L.
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Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study
err2015-01-01
err19
errOAAI
errMercimek-Mahmutoglu, Saadet; Sidky, Sarah; Hyland, Keith; Patel, Jaina; Donner, Elizabeth J.; Logan, William; Mendoza-Londono, Roberto; Moharir, Mahendranath; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Yoon, Grace; Kyriakopoulou, Lianna
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Decreased systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in children with cerebral malaria
err2014-11-01
err0
PREAI
errRubach, Matthew P.; Weinberg, J. Brice; Mukemba, Jackson; Florence, Salvatory; Lopansri, Bert K.; Hyland, Keith; Volkheimer, Alicia D.; Yeo, Tsin W.; Anstey, Nicholas M.; Mwaikambo, Esther D.; Grangeri, Donald L.
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Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency and Two MTHFR Variants in an Adolescent With Progressive Myoclonic Epilepsy
err2014-08-01
err21
PREAI
errD'Aco, Kristin E.; Bearden, David; Watkins, David; Hyland, Keith; Rosenblatt, David S.; Ficicioglu, Can
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Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
errBRAIN
IF11.7
err2014-03-10
err119
errOAAI
errNg, Joanne; Zhen, Juan; Meyer, Esther; Erreger, Kevin; Li, Yan; Kakar, Naseebullah; Ahmad, Jamil; Thiele, Holger; Kubisch, Christian; Rider, Nicholas L.; Morton, D. Holmes; Strauss, Kevin A.; Puffenberger, Erik G.; D'Agnano, Daniela; Anikster, Yair; Carducci, Claudia; Hyland, Keith; Rotstein, Michael; Leuzzi, Vincenzo; Borck, Guntram; Reith, Maarten E. A.; Kurian, Manju A.
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A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population
err2014-02-15
err87
PREAI
errvan den Heuvel, LPWJ; Luiten, B; Smeitink, JAM; Rijk-van Andel, JF; Hyland, K; Steenbergen-Spanjers, GCH; Janssen, RJT; Wevers, RA
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Serotonin Metabolites in the Cerebrospinal Fluid in Sudden Infant Death Syndrome
err2014-02-01
err21
errOAAI
errRognum, Ingvar J.; Hoa Tran; Haas, Elisabeth A.; Hyland, Keith; Paterson, David S.; Haynes, Robin L.; Broadbelt, Kevin G.; Harty, Brian J.; Mena, Othon; Krous, Henry F.; Kinney, Hannah C.
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