Search Results - "Hyland, Keith"

Clinical Utility of Monoamine Neurotransmitter Metabolite Analysis in Cerebrospinal Fluid by Hyland, Keith

“…Measurements of monoamine neurotransmitters and their metabolites in plasma and urine are commonly used to aid in the detection and monitoring of neuroblastoma…”
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Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids by Hyland, Keith

“…Many inherited disorders affecting aromatic amino acid metabolism have been described. This review will concentrate on the defects that lead to deficiencies of…”
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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 by Pearson, 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, de Oliveira Barbosa, Gardenia, Heathcock, Jill C., Minnema, Amy, Lonser, Russell, Elder, J. Bradley, Leonard, Jeffrey, Larson, Paul, Bankiewicz, Krystof S.

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in…”
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Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings by Monteleone, Berrin, Hyland, Keith

“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants…”
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Cerebral folate deficiency by Hyland, Keith, Shoffner, John, Heales, Simon J

“…Cerebral folate deficiency (CFD) is defined as any neurological syndrome associated with a low cerebrospinal fluid (CSF) concentration of…”
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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities by Samaco, Rodney C, Mandel-Brehm, Caleigh, Chao, Hsiao-Tuan, Ward, Christopher S, Fyffe-Maricich, Sharyl L, Ren, Jun, Hyland, Keith, Thaller, Christina, Maricich, Stephen M, Humphreys, Peter, Greer, John J, Percy, Alan, Glaze, Daniel G, Zoghbi, Huda Y, Neul, Jeffrey L

“…Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Because several of these abnormalities occur in other disease…”
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Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening by Wempe, Michael F., Kumar, Amit, Kumar, Vijay, Choi, Yu J., Swanson, Michael A., Friederich, Marisa W., Hyland, Keith, Yue, Wyatt W., Van Hove, Johan L. K., Coughlin, Curtis R.

“…Pyridoxine‐dependent epilepsy (PDE) is often characterized as an early onset epileptic encephalopathy with dramatic clinical improvement following pyridoxine…”
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Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy by Friedman, Jennifer, Roze, Emmanuel, Abdenur, Jose E., Chang, Richard, Gasperini, Serena, Saletti, Veronica, Wali, Gurusidheshwar M., Eiroa, Hernan, Neville, Brian, Felice, Alex, Parascandalo, Ray, Zafeiriou, Dimitrios I., Arrabal-Fernandez, Luisa, Dill, Patricia, Eichler, Florian S., Echenne, Bernard, Gutierrez-Solana, Luis G., Hoffmann, Georg F., Hyland, Keith, Kusmierska, Katarzyna, Tijssen, Marina A. J., Lutz, Thomas, Mazzuca, Michel, Penzien, Johann, Poll-The, Bwee Tien, Sykut-Cegielska, Jolanta, Szymanska, Krystyna, Thöny, Beat, Blau, Nenad

“…Objective: Sepiapterin reductase deficiency (SRD) is an under‐recognized levodopa‐responsive disorder. We describe clinical, biochemical, and molecular…”
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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 by Yeo, Tsin W, Lampah, Daniel A, Kenangalem, Enny, Tjitra, Emiliana, Price, Ric N, Weinberg, J Brice, Hyland, Keith, Granger, Donald L, Anstey, Nicholas M

“…Tetrahydrobiopterin (BH₄) is a co-factor required for catalytic activity of nitric oxide synthase (NOS) and amino acid-monooxygenases, including phenylalanine…”
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Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models by Farook, M Febin, DeCuypere, Michael, Hyland, Keith, Takumi, Toru, LeDoux, Mark S, Reiter, Lawrence T

“…Childhood neurodevelopmental disorders like Angelman syndrome and autism may be the result of underlying defects in neuronal plasticity and ongoing problems…”
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Impaired systemic tetrahydrobiopterin bioavailability and increased oxidized biopterins in pediatric falciparum malaria: association with disease severity by Rubach, 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

“…Decreased bioavailability of nitric oxide (NO) is a major contributor to the pathophysiology of severe falciparum malaria. Tetrahydrobiopterin (BH4) is an…”
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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 by Smith, Neil, Longo, Nicola, Levert, Keith, Hyland, Keith, Blau, Nenad

“…Tetrahydrobiopterin (BH4) is a cofactor for the enzymes tyrosine hydroxylase and tryptophan hydroxylase, the rate-limiting enzymes in the production of the…”
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Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency by Champagne, Marjolaine, Horvath, Gabriella A., Perreault, Sébastien, Gauthier, Julie, Hyland, Keith, Soucy, Jean‐François, Mitchell, Grant A.

“…Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A,…”
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The lumbar puncture for diagnosis of pediatric neurotransmitter diseases by Hyland, Keith

“…The investigation of infants and children with suspected pediatric neurotransmitter diseases affecting serotonin and catecholamine metabolism is complicated…”
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Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency and Two MTHFR Variants in an Adolescent With Progressive Myoclonic Epilepsy by D'Aco, Kristin E., MD, Bearden, David, MD, Watkins, David, PhD, Hyland, Keith, PhD, Rosenblatt, David S., MD, Ficicioglu, Can, MD, PhD

“…Abstract Background 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of the folate-recycling pathway that affects the…”
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Seizures With Decreased Levels of Pyridoxal Phosphate in Cerebrospinal Fluid by Goyal, Monisha, MD, Fequiere, Pierre R., MD, McGrath, Tony M., MD, Hyland, Keith, PhD

“…Abstract Although pyridoxine-dependent seizures have been reported for decades, pyridoxamine phosphate oxidase deficiency has only been recently described…”
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Serotonin Metabolites in the Cerebrospinal Fluid in Sudden Infant Death Syndrome by Rognum, Ingvar J, Tran, Hoa, 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

“…ABSTRACTForensic biomarkers are needed in sudden infant death syndrome (SIDS) to help identify this group among other sudden unexpected deaths in infancy…”
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Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency by Moretti, Paolo, Peters, Sarika U., del Gaudio, Daniela, Sahoo, Trilochan, Hyland, Keith, Bottiglieri, Teodoro, Hopkin, Robert J., Peach, Elizabeth, Min, Sang Hee, Goldman, David, Roa, Benjamin, Bacino, Carlos A., Scaglia, Fernando

“…We studied seven children with CNS folate deficiency (CFD). All cases exhibited psychomotor retardation, regression, cognitive delay, and dyskinesia; six had…”
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Clinical Trial to Evaluate Omega-3 Fatty Acids and Alternate Day Prednisone in Patients with IgA Nephropathy: Report from the Southwest Pediatric Nephrology Study Group by Hogg, Ronald J, Lee, Jeannette, Nardelli, Nancy, Julian, Bruce A, Cattran, Daniel, Waldo, Bryson, Wyatt, Robert, Jennette, J Charles, Sibley, Richard, Hyland, Keith, Fitzgibbons, Lisa, Hirschman, Gladys, Donadio, Jr, James V, Holub, Bruce J

“…This randomized, placebo-controlled, double-blind trial evaluated the role of prednisone and omega 3 fatty acids (O3FA) in patients with IgA nephropathy. Entry…”
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Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations by Hyland, Keith, Reott, Michael

“…Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder that results from disease-causing pathogenic variants of the…”
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