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Keith Hyland - Publications

Affiliations: 
Baylor University, Waco, TX 
Area:
Neuroscience Biology
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60 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Tristán-Noguero A, Borràs E, Molero-Luis M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, et al. Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 33152132 DOI: 10.1002/mds.28362  0.303
2019 Smith N, Longo N, Levert K, Hyland K, Blau N. 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. Molecular Genetics and Metabolism Reports. 21: 100500. PMID 31453106 DOI: 10.1016/J.Ymgmr.2019.100500  0.387
2019 Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook. Molecular Genetics and Metabolism. PMID 30952622 DOI: 10.1016/J.Ymgme.2019.03.009  0.402
2019 Smith N, Longo N, Levert K, Hyland K, Blau N. Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers. Molecular Genetics and Metabolism. PMID 30922814 DOI: 10.1016/J.Ymgme.2019.02.001  0.327
2018 Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, et al. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. Journal of Inherited Metabolic Disease. PMID 30043187 DOI: 10.1002/Jimd.12045  0.307
2016 Shoffner J, Trommer B, Thurm A, Farmer C, Langley WA, Soskey L, Rodriguez AN, D'Souza P, Spence SJ, Hyland K, Swedo SE. CSF concentrations of 5-methyltetrahydrofolate in a cohort of young children with autism. Neurology. PMID 27178705 DOI: 10.1212/Wnl.0000000000002766  0.329
2016 Lim YY, Tapawan SJC, Pang AYW, Hyland K, Tay SKH. Secondary Cerebral Folate Deficiency Comorbidity in Neuronal Ceroid Lipofuscinosis Journal of Pediatric Neurology. 14: 78-81. DOI: 10.1055/s-0036-1583275  0.367
2014 Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, ... ... Hyland K, et al. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain : a Journal of Neurology. 137: 1107-19. PMID 24613933 DOI: 10.1093/Brain/Awu022  0.349
2014 Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome Journal of Inherited Metabolic Disease. 37: 415-420. PMID 24500076 DOI: 10.1007/s10545-013-9672-5  0.322
2013 Ng J, Li Y, Zhen J, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider N, Strauss K, Holmes-Morton D, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rostein M, et al. O1 – 1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism European Journal of Paediatric Neurology. 17: S1. DOI: 10.1016/S1090-3798(13)00130-X  0.32
2012 Friedman J, Roze E, Abdenur JE, Chang R, Gasperini S, Saletti V, Wali GM, Eiroa H, Neville B, Felice A, Parascandalo R, Zafeiriou DI, Arrabal-Fernandez L, Dill P, Eichler FS, ... ... Hyland K, et al. Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Annals of Neurology. 71: 520-30. PMID 22522443 DOI: 10.1002/Ana.22685  0.324
2012 O'Leary RE, Shih JC, Hyland K, Kramer N, Asher YJ, Graham JM. De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: a genomics approach to personalized medicine. European Journal of Medical Genetics. 55: 349-53. PMID 22365943 DOI: 10.1016/j.ejmg.2012.01.007  0.316
2012 Starnes M, Shoffner J, Hyland K. Rapid and Dramatic Decreases of Cerebral 5-Methyltetrahydrofolate: A Treatable Form of Progressive Neurodegeneration (S28.007) Neurology. 78. DOI: 10.1212/Wnl.78.1_Meetingabstracts.S28.007  0.409
2012 Langley W, Hyland K, Mylacraine L, Shoffner J. Detection of Anti-Folate Receptor Antibodies in the Serum and CSF of Cerebral Folate Deficiency Patients (P02.171) Neurology. 78: P02.171-P02.171. DOI: 10.1212/Wnl.78.1_Meetingabstracts.P02.171  0.352
2011 Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, ... Hyland K, et al. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. The Lancet. Neurology. 10: 54-62. PMID 21112253 DOI: 10.1016/S1474-4422(10)70269-6  0.325
2010 Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. Journal of Inherited Metabolic Disease. 33: 563-70. PMID 20668945 DOI: 10.1007/S10545-010-9159-6  0.423
2010 Allen GF, Neergheen V, Oppenheim M, Fitzgerald JC, Footitt E, Hyland K, Clayton PT, Land JM, Heales SJ. 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 states. Journal of Neurochemistry. 114: 87-96. PMID 20403077 DOI: 10.1111/J.1471-4159.2010.06742.X  0.375
2010 Shoffner J, Hyams L, Langley GN, Cossette S, Mylacraine L, Dale J, Ollis L, Kuoch S, Bennett K, Aliberti A, Hyland K. Fever plus mitochondrial disease could be risk factors for autistic regression. Journal of Child Neurology. 25: 429-34. PMID 19773461 DOI: 10.1177/0883073809342128  0.305
2009 Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Annals of Neurology. 65: 550-6. PMID 19142996 DOI: 10.1002/Ana.21568  0.325
2008 Hyland K. Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid. Clinical Chemistry. 54: 633-41. PMID 18310141 DOI: 10.1373/Clinchem.2007.099986  0.354
2008 Ormazabal A, Oppenheim M, Serrano M, García-Cazorla A, Campistol J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S, Artuch R. Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients. Molecular Genetics and Metabolism. 94: 173-7. PMID 18294893 DOI: 10.1016/J.Ymgme.2008.01.004  0.319
2008 Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. Molecular Genetics and Metabolism. 94: 127-31. PMID 18276179 DOI: 10.1016/J.Ymgme.2008.01.003  0.43
2008 Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F. Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. Journal of Autism and Developmental Disorders. 38: 1170-7. PMID 18027081 DOI: 10.1007/S10803-007-0492-Z  0.324
2007 Tay SK, Poh KS, Hyland K, Pang YW, Ong HT, Low PS, Goh DL. Unusually mild phenotype of AADC deficiency in 2 siblings. Molecular Genetics and Metabolism. 91: 374-8. PMID 17533144 DOI: 10.1016/j.ymgme.2007.04.006  0.303
2007 Hyland K. Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids. The Journal of Nutrition. 137: 1568S-1572S; discuss. PMID 17513427  0.314
2006 Friedman J, Hyland K, Blau N, MacCollin M. Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology. 67: 2032-5. PMID 17159114 DOI: 10.1212/01.Wnl.0000247274.21261.B4  0.37
2005 Demos MK, Waters PJ, Vallance HD, Lillquist Y, Makhseed N, Hyland K, Blau N, Connolly MB. 6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Annals of Neurology. 58: 164-7. PMID 15984017 DOI: 10.1002/Ana.20532  0.343
2004 Assmann BE, Robinson RO, Surtees RAH, Bräutigam C, Heales SJR, Wevers RA, Zschocke J, Hyland K, Sharma R, Hoffmann GF. Infantile parkinsonism-dystonia and elevated dopamine metabolites in CSF Neurology. 62: 1872-1874. PMID 15159499 DOI: 10.1212/01.Wnl.0000126440.16612.51  0.386
2004 Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 62: 1058-65. PMID 15079002 DOI: 10.1212/Wnl.62.7.1058  0.351
2003 Hyland K, Gunasekara RS, Munk-Martin TL, Arnold LA, Engle T. The hph-1 mouse: a model for dominantly inherited GTP-cyclohydrolase deficiency. Annals of Neurology. 54: S46-8. PMID 12891653 DOI: 10.1002/ana.10695  0.507
2003 Hyland K. The lumbar puncture for diagnosis of pediatric neurotransmitter diseases. Annals of Neurology. 54: S13-7. PMID 12891649 DOI: 10.1002/Ana.10627  0.386
1999 Heales SJ, Canevari L, Brand MP, Clark JB, Land JM, Hyland K. Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration. Journal of Inherited Metabolic Disease. 22: 221-3. PMID 10384372 DOI: 10.1023/A:1005540828706  0.32
1998 Kaye EM, Hyland K. Amino acids and the brain Too much, too little, or just inappropriate use of a good thing? Neurology. 51: 668-670. PMID 9748007 DOI: 10.1212/Wnl.51.3.668  0.416
1998 Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Annals of Neurology. 43: 521-6. PMID 9546335 DOI: 10.1002/Ana.410430417  0.315
1998 Hyland K, Arnold LA. Dopa-Responsive Dystonia, Tyrosine Hydroxylase Deficiency and Aromatic L-Amino Acid Decarboxylase Deficiency: Multifaceted Diseases That Can Masquerade as Cerebral Palsy • 1874 Pediatric Research. 43: 319-319. DOI: 10.1203/00006450-199804001-01897  0.488
1997 Quinn CT, Griener JC, Bottiglieri T, Hyland K, Farrow A, Kamen BA. Elevation of homocysteine and excitatory amino acid neurotransmitters in the CSF of children who receive methotrexate for the treatment of cancer. Journal of Clinical Oncology. 15: 2800-2806. PMID 9256122 DOI: 10.1200/Jco.1997.15.8.2800  0.341
1997 Hoffman GF, Assmann B, Bräutigam C, Wevers RA, Hyland K. Parkinsonian-Like Locomotor Impairment in A Child With A Putative Defect of Dopamine D2 Receptors Pediatric Research. 42: 415-415. DOI: 10.1203/00006450-199709000-00201  0.387
1996 Brand MP, Hyland K, Engle T, Smith I, Heales SJ. Neurochemical effects following peripheral administration of tetrahydropterin derivatives to the hph-1 mouse. Journal of Neurochemistry. 66: 1150-6. PMID 8769878 DOI: 10.1046/J.1471-4159.1996.66031150.X  0.348
1996 Chang YT, Mues G, Pittelkow MR, Hyland K. Cultured human keratinocytes as a peripheral source of mRNA for tyrosine hydroxylase and aromatic L-amino acid decarboxylase. Journal of Inherited Metabolic Disease. 19: 239-42. PMID 8739975 DOI: 10.1007/Bf01799439  0.328
1995 Metz J, McGrath K, Bennett M, Hyland K, Bottiglieri T. Biochemical indices of vitamin B12 nutrition in pregnant patients with subnormal serum vitamin B12 levels. American Journal of Hematology. 48: 251-5. PMID 7717374 DOI: 10.1002/Ajh.2830480409  0.316
1994 Bottiglieri T, Hyland K, Reynolds EH. The Clinical Potential of Ademetionine (S-Adenosylmethionine) in Neurological Disorders Drugs. 48: 137-152. PMID 7527320 DOI: 10.2165/00003495-199448020-00002  0.373
1993 Hyland K. Abnormalities of biogenic amine metabolism. Journal of Inherited Metabolic Disease. 16: 676-90. PMID 8412014 DOI: 10.1007/Bf00711900  0.326
1993 Batshaw ML, Robinson MB, Hyland K, Djali S, Heyes MP. Quinolinic acid in children with congenital hyperammonemia. Annals of Neurology. 34: 676-81. PMID 7694541 DOI: 10.1002/Ana.410340509  0.318
1993 Hyland K, Surtees RAH, Heales SJR, Bowron A, Howells DW, Smith I. Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population Pediatric Research. 34: 10-14. PMID 7689195 DOI: 10.1203/00006450-199307000-00003  0.396
1993 Howells DW, Hyland K, Smith I, Strobel S. Tryptophan and serotonin metabolism in familial erythrophagocytic lymphohistiocytosis. Journal of Inherited Metabolic Disease. 15: 891-7. PMID 1284084 DOI: 10.1007/Bf01800228  0.374
1992 Hyland K, Surtees RAH, Rodeck C, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis. Neurology. 42: 1980-1980. PMID 1357595 DOI: 10.1212/Wnl.42.10.1980  0.358
1992 Hyland K, Clayton PT. Aromatic L-amino acid decarboxylase deficiency: diagnostic methodology. Clinical Chemistry. 38: 2405-2410. DOI: 10.1093/Clinchem/38.12.2405  0.394
1990 Howells DW, Strobel S, Smith I, Levinsky RJ, Hyland K. Central nervous system involvement in the erythrophagocytic disorders of infancy: the role of cerebrospinal fluid neopterins in their differential diagnosis and clinical management. Pediatric Research. 28: 116-119. PMID 2395601 DOI: 10.1203/00006450-199008000-00008  0.35
1990 Hyland K, Clayton PT. Aromatic amino acid decarboxylase deficiency in twins. Journal of Inherited Metabolic Disease. 13: 301-4. PMID 1700191 DOI: 10.1007/Bf01799380  0.323
1989 Habibi P, Strobel S, Smith I, Hyland K, Howells DW, Holzel H, Brett EM, Wilson J, Morgan G, Levinsky RJ. Neurodevelopmental delay and focal seizures as presenting symptoms of human immunodeficiency virus I infection. European Journal of Pediatrics. 148: 315-317. PMID 2468497 DOI: 10.1007/Bf00444122  0.315
1988 Hyland K, Smith I, Bottiglieri T, Perry J, Wendel U, Clayton PT, Leonard JV. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology. 38: 459-459. PMID 3347350 DOI: 10.1212/Wnl.38.3.459  0.371
1987 Hyland K, Smith I, Leonard JV. Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency. Journal of Neurology, Neurosurgery, and Psychiatry. 50: 242. PMID 3572445 DOI: 10.1136/Jnnp.50.2.242  0.359
1987 Smith I, Howells DW, Kendall B, Levinsky R, Hyland K. Folate deficiency and demyelination in AIDS. Lancet (London, England). 2: 215. PMID 2885665 DOI: 10.1016/S0140-6736(87)90792-6  0.315
1986 Hyland K, Smith I, Clayton PT, Leonard JV. Impaired neurotransmitter amine metabolism in arginase deficiency. Journal of Neurology, Neurosurgery, and Psychiatry. 48: 1188-9. PMID 4078590 DOI: 10.1136/Jnnp.48.11.1188-A  0.339
1986 Smith I, Leeming RJ, Cavanagh NP, Hyland K. Neurological aspects of biopterin metabolism. Archives of Disease in Childhood. 61: 130-7. PMID 3954438 DOI: 10.1136/Adc.61.2.130  0.338
1986 Clayton PT, Smith I, Harding B, Hyland K, Leonard JV, Leeming RJ. Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism. Journal of Neurology, Neurosurgery, and Psychiatry. 49: 920-7. PMID 3755752 DOI: 10.1136/Jnnp.49.8.920  0.4
1986 Smith I, Howells DW, Hyland K. Pteridines and mono-amines: relevance to neurological damage. Postgraduate Medical Journal. 62: 113-123. PMID 3540926 DOI: 10.1136/Pgmj.62.724.113  0.431
1986 Pollock MA, Cumberbatch M, Bennett MJ, Gray RG, Brand M, Hyland K, Congdon PJ, Pitts-Tucker T, Gray S. Pyruvate carboxylase deficiency in twins. Journal of Inherited Metabolic Disease. 9: 29-30. PMID 3088322 DOI: 10.1007/Bf01813898  0.321
1986 Pinkerton CR, Smith I, Leeming RJ, Sarna G, Hyland K, Curzon G, Chessells JM. Biopterin and neurotransmitter amine metabolism in children with acute lymphoblastic leukemia receiving methotrexate therapy. The Journal of Pediatrics. 108: 470-4. PMID 2419534 DOI: 10.1016/S0022-3476(86)80904-0  0.345
1985 Smith I, Hyland K, Kendall B. Clinical role of pteridine therapy in tetrahydrobiopterin deficiency. Journal of Inherited Metabolic Disease. 39-45. PMID 3930840 DOI: 10.1007/Bf01800658  0.383
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