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1. Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria.

Author

Rubach, 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, and Granger, Donald L

Subjects
Neurosciences, Malaria, Pediatric, Vector-Borne Diseases, Rare Diseases, Brain Disorders, Clinical Research, Good Health and Well Being, Biopterin, Central Nervous System Diseases, Child, Child, Preschool, Female, Homovanillic Acid, Humans, Hydroxyindoleacetic Acid, Infant, Malaria, Cerebral, Male, Neopterin, Neurotransmitter Agents, Prospective Studies, Pterins, Reference Values, Tanzania, Tyrosine, cerebral malaria, neopterin, neurotransmitter, P falciparum, tetrahydrobiopterin, P falciparum, Biological Sciences, Medical and Health Sciences, Microbiology
Abstract

BackgroundCerebral malaria (CM) pathogenesis remains incompletely understood. Having shown low systemic levels of tetrahydrobiopterin (BH4), an enzymatic cofactor for neurotransmitter synthesis, we hypothesized that BH4 and BH4-dependent neurotransmitters would likewise be low in cerebrospinal fluid (CSF) in CM.MethodsWe prospectively enrolled Tanzanian children with CM and children with nonmalaria central nervous system conditions (NMCs). We measured CSF levels of BH4, neopterin, and BH4-dependent neurotransmitter metabolites, 3-O-methyldopa, homovanillic acid, and 5-hydroxyindoleacetate, and we derived age-adjusted z-scores using published reference ranges.ResultsCerebrospinal fluid BH4 was elevated in CM (n = 49) compared with NMC (n = 51) (z-score 0.75 vs -0.08; P

Published
2021

2. Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons.

Author

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, and Bankiewicz, Krystof S

Subjects
Mesencephalon, Humans, Dependovirus, Dyskinesias, Amino Acid Metabolism, Inborn Errors, Aromatic-L-Amino-Acid Decarboxylases, Neurotransmitter Agents, Magnetic Resonance Imaging, Gene Transfer Techniques, Motor Activity, Time Factors, Child, Child, Preschool, Female, Male, Metabolome, Dopaminergic Neurons, Genetic Therapy
Abstract

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in early infancy, and causes severe developmental disability and lifelong motor, behavioral, and autonomic symptoms including oculogyric crises (OGC), sleep disorder, and mood disturbance. We investigated the safety and efficacy of delivery of a viral vector expressing AADC (AAV2-hAADC) to the midbrain in children with AADC deficiency (ClinicalTrials.gov Identifier NCT02852213). Seven (7) children, aged 4-9 years underwent convection-enhanced delivery (CED) of AAV2-hAADC to the bilateral substantia nigra (SN) and ventral tegmental area (VTA) (total infusion volume: 80 µL per hemisphere) in 2 dose cohorts: 1.3 × 1011 vg (n = 3), and 4.2 × 1011 vg (n = 4). Primary aims were to demonstrate the safety of the procedure and document biomarker evidence of restoration of brain AADC activity. Secondary aims were to assess clinical improvement in symptoms and motor function. Direct bilateral infusion of AAV2-hAADC was safe, well-tolerated and achieved target coverage of 98% and 70% of the SN and VTA, respectively. Dopamine metabolism was increased in all subjects and FDOPA uptake was enhanced within the midbrain and the striatum. OGC resolved completely in 6 of 7 subjects by Month 3 post-surgery. Twelve (12) months after surgery, 6/7 subjects gained normal head control and 4/7 could sit independently. At 18 months, 2 subjects could walk with 2-hand support. Both the primary and secondary endpoints of the study were met. Midbrain gene delivery in children with AADC deficiency is feasible and safe, and leads to clinical improvements in symptoms and motor function.

Published
2021

4. Contributors

Author

Accorsi–Mendonça, Daniela, primary, Adams, David J., additional, Allen, Andrew M., additional, Alvarenga, Marlies, additional, Ardell, Jeffrey L., additional, Arnold, Amy C., additional, Ashton, Jesse L., additional, Badrov, Mark B., additional, Ballantyne, Brennan A., additional, Bardsley, Emma N., additional, Barez-Lopez, Soledad, additional, Barman, Susan M., additional, Barrett, Carolyn J., additional, Bauer, Deborah, additional, Bell, Christopher, additional, Ben-Tal, Alona, additional, Benarroch, Eduardo E., additional, Biaggioni, Italo, additional, Brandl, Katharina, additional, Brooks, Virginia L., additional, Brown, Amy E., additional, Browning, Kirsteen N., additional, Bryarly, Meredith, additional, Camargo, Livia L., additional, Camilleri, Michael, additional, Campbell, Preston J., additional, Caron, Marc G., additional, Carter, Jason R., additional, Chapleau, Mark W., additional, Charkoudian, Nisha, additional, Chelimsky, Gisela, additional, Chelimsky, Thomas C., additional, Chompoopong, Pitcha, additional, Claydon, Victoria E., additional, Clément, Gilles, additional, Convertino, Victor A., additional, Coon, Elizabeth A., additional, Cortelli, Pietro, additional, Davis, Stephen N., additional, Diedrich, André, additional, DiPette, Donald J., additional, Diz, Debra I., additional, Drake, Marcus J., additional, Eisenhofer, Graeme, additional, Elefteriou, Florent, additional, Elijovich, Fernando, additional, Elmenhorst, Eva-Maria, additional, English, Brett A., additional, Esler, Murray, additional, Esler, Rosemary, additional, Fadel, Paul J., additional, Fahrenholz, John M., additional, Fanciulli, Alessandra, additional, Fang, John Y., additional, Fealey, Robert D., additional, Ferreira, Nathanne S., additional, Filogonio, Renato, additional, Fink, Gregory D., additional, Fisher, James P., additional, Floras, John S., additional, Fountain, Samuel J., additional, Fu, Qi, additional, Fudim, Marat, additional, Furlan, Raffaello, additional, Gamboa, Alfredo, additional, Garland, Emily M., additional, Gibbons, Christopher H., additional, Giritharan, Andrew, additional, Goldstein, David S., additional, Golombék, Diego A., additional, Gomez-Sanchez, Elise P., additional, Gomez-Sanchez, Celso E., additional, Graham, Robert M., additional, Grassi, Guido, additional, Greenlund, Ian M., additional, Grubb, Blair P., additional, Guekht, Alla, additional, Guild, Sarah-Jane, additional, Guo, Ling, additional, Gurevich, Vsevolod V., additional, Habermann, Ralf, additional, Hadaya, Joseph, additional, Hahn, Maureen K., additional, Hanna, Peter, additional, Henderson, Luke A., additional, Herring, Neil, additional, Hilz, Max J., additional, Hunter, Peter, additional, Hyland, Keith, additional, Hyland, Lauren A., additional, Jackson, Edwin Kerry, additional, Jacob, Giris, additional, Jänig, Wilfrid, additional, Japundžić-Žigon, Nina, additional, Jones, Carrie K., additional, Joos, Karen M., additional, Jordan, Jens, additional, Joyce, William, additional, Kaidonis, Xenia, additional, Kaufmann, Horacio, additional, Kaye, David, additional, Khan Minhas, Abdul Mannan, additional, Kim, Joyce S., additional, Kitta, Takeya, additional, Kline, David D., additional, Konecny, Thomas, additional, Koons, Natalie J., additional, Kumar, Ambrish, additional, Laffer, Cheryl L., additional, Lagrange, Andre H., additional, Laiken, Nora, additional, Lambert, Gavin, additional, Lambert, Elisabeth, additional, Lamotte, Guillaume, additional, Lenders, Jacques W.M., additional, Levine, Benjamin D., additional, Leys, Fabian, additional, Limper, Ulrich, additional, Lin, Mabelle, additional, Listik, Eduardo, additional, Longmuir, Reid, additional, Low, David A., additional, Low, Phillip A., additional, Luther, James M., additional, Macefield, Vaughan G., additional, Machado, Benedito H., additional, Madel, Maria-Bernadette, additional, Martelli, Davide, additional, Mathias, Christopher J., additional, Mauermann, Michelle L., additional, McAllen, Robin M., additional, McBryde, Fiona D., additional, McKeon, Andrew, additional, McKinley, Michael J., additional, Menuet, Clément, additional, Milam, Douglas F., additional, Mohl, Marion C., additional, Montgomery, Johanna M., additional, Moraes, Davi J.A., additional, Morrison, Shaun F., additional, Murphy, David, additional, Nichols, Charles D., additional, Niewiński, Piotr, additional, Norcliffe-Kaufmann, Lucy, additional, Okamoto, Luis E., additional, Osanlouy, Mahyar, additional, Osborn, John W., additional, Oubaid, Viktor, additional, Palma, Jose-Alberto, additional, Pamporaki, Christina, additional, Parsons, Brian A., additional, Paterson, David J., additional, Paton, Julian F.R., additional, Peltier, Amanda C., additional, Pensato, Umberto, additional, Peterson, Sean M., additional, Phibbs, Fenna T., additional, Pierangeli, Giulia, additional, Potts, Jay D., additional, Rabinstein, Alejandro A., additional, Raizada, Mohan K., additional, Raj, Satish R., additional, Rand, Casey M., additional, Reichmann, Heinz, additional, Robertson, Calum, additional, Robertson, Rose Marie, additional, Robinson, Michael B., additional, Ruzieh, Mohammed, additional, Sandroni, Paola, additional, Sato, Takayuki, additional, Schiffrin, Ernesto L., additional, Schlaich, Markus, additional, Schondorf, Ronald, additional, Schultz, Harold D., additional, Scott, Michael M., additional, Seravalle, Gino, additional, Shannon, John R., additional, Sheikh, Abu Baker, additional, Shibao, Cyndya A., additional, Shivkumar, Kalyanam, additional, Shouman, Kamal, additional, Siepmann, Timo, additional, Singer, Wolfgang, additional, Soltani, Elias, additional, Somers, Virend, additional, Sridharan, Aadhavi, additional, Stefanova, Nadia, additional, Stewart, Julian, additional, Stiles, Lauren E., additional, Sunagawa, Kenji, additional, Tank, Jens, additional, Thijs, Roland D., additional, Tomek, Jakub, additional, Touyz, Rhian M., additional, Tracy, Jennifer A., additional, Travagli, R. Alberto, additional, Undem, Bradley J., additional, Urs, Nikhil, additional, Vernino, Steven, additional, Vianna, Lauro C., additional, Vigo, Daniel E., additional, Vizzard, Margaret A., additional, Wahba, Amr, additional, Waheed, Waqar, additional, Wang, Han-Jun, additional, Wang, Tobias, additional, Wang, Qin, additional, Wang, Ruihao, additional, Weese-Mayer, Debra E., additional, Wenning, Gregor K., additional, Wieling, Wouter, additional, Williams, Kevin W., additional, Winzer-Serhan, Ursula H., additional, Wood, Scott, additional, Yap, Kai Lee, additional, Yoshimura, Naoki, additional, Zavalin, Kirill A., additional, Zhuravlev, Dmitry, additional, Zoccal, Daniel B., additional, and Zubcevic, Jasenka, additional

Published
2023
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9. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Author

Coughlin, II, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Jr, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., and Van Hove, Johan L. K.

Published
2018
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10. Normal Cerebrospinal Fluid Pyridoxal 5′-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy

Author

Levtova, Alina, Camuzeaux, Stephane, Laberge, Anne-Marie, Allard, Pierre, Brunel-Guitton, Catherine, Diadori, Paola, Rossignol, Elsa, Hyland, Keith, Clayton, Peter T., Mills, Philippa B., Mitchell, Grant A., Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
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11. Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

Author

Engelke, 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., Shekaili, Hilal H. Al-, 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, and Coene, Karlien L.M.

Subjects
Identification and classification, Diagnosis, Methods, Health aspects, Epilepsy -- Diagnosis, Metabolomics -- Methods, Pyridoxine -- Health aspects, Inborn errors of metabolism -- Diagnosis, Biological markers -- Identification and classification, Infrared spectroscopy -- Methods, Metabolism, Inborn errors of -- Diagnosis, Vitamin B6 -- Health aspects
Abstract

Introduction Pyridoxine-dependent epilepsy due to biallelic ALDH7A1 variants (OMIM 266100, PDE-ALDH7A1) is an inborn error of metabolism (IEM) that presents with refractory seizures in early infancy. These seizures are typically [...], Background. Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an inborn error of lysine catabolism that presents with refractory epilepsy in newborns. Biallelic ALDH7A1 variants lead to deficiency of a-aminoadipic semialdehyde dehydrogenase/antiquitin, resulting in accumulation of piperideine-6-carboxylate (P6C), and secondary deficiency of the important cofactor pyridoxal-5-phosphate (PLP, active vitamin B6) through its complexation with P6C. Vitamin B6 supplementation resolves epilepsy in patients, but intellectual disability may still develop. Early diagnosis and treatment, preferably based on newborn screening, could optimize long-term clinical outcome. However, no suitable PDE-ALDH7A1 newborn screening biomarkers are currently available. Methods. We combined the innovative analytical methods untargeted metabolomics and infrared ion spectroscopy to discover and identify biomarkers in plasma that would allow for PDE-ALDH7A1 diagnosis in newborn screening. Results. We identified 2S,6S-/2S,6R-oxopropylpiperidine-2-carboxylic acid (2- OPP) as a PDE-ALDH7A1 biomarker, and confirmed 6-oxopiperidine-2-carboxylic acid (6-oxoPIP) as a biomarker. The suitability of 2-OPP as a potential PDE-ALDH7A1 newborn screening biomarker in dried bloodspots was shown. Additionally, we found that 2-OPP accumulates in brain tissue of patients and Aldh7a1-knockout mice, and induced epilepsy-like behavior in a zebrafish model system. Conclusion. This study has opened the way to newborn screening for PDE-ALDH7A1. We speculate that 2-OPP may contribute to ongoing neurotoxicity, also in treated PDE-ALDH7A1 patients. As 2-OPP formation appears to increase upon ketosis, we emphasize the importance of avoiding catabolism in PDE-ALDH7A1 patients. Funding. Society for Inborn Errors of Metabolism for Netherlands and Belgium (ESN), United for Metabolic Diseases (UMD), Stofwisselkracht, Radboud University, Canadian Institutes of Health Research, Dutch Research Council (NWO), and the European Research Council (ERC).

Published
2021
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20. Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior.

Author

Pan, Lisa A., Segreti, Anna Maria, Wrobleski, Joseph, Shaw, Annie, Hyland, Keith, Hughes, Marion, Finegold, David N., Naviaux, Robert K., Brent, David A., Vockley, Jerry, and Peters, David G.

Subjects
FOLIC acid deficiency, HIGH performance liquid chromatography, METABOLOMICS, ELECTROSPRAY ionization mass spectrometry, SUICIDAL ideation, PHENYLKETONURIA, GAS chromatography, MENTAL depression, RESEARCH funding, MASS spectrometry
Abstract

Background: Refractory depression is a devastating condition with significant morbidity, mortality, and societal cost. Approximately 15% of patients with major depressive disorder are refractory to currently available treatments. We hypothesized metabolic abnormalities contributing to treatment refractory depression are associated with distinct findings identifiable in the cerebrospinal fluid (CSF). Our hypothesis was confirmed by a previous small case-controlled study. Here we present a second, larger replication study. Methods: We conducted a case-controlled, targeted, metabolomic evaluation of 141 adolescent and adult patients with well-characterized history of depression refractory to three maximum-dose, adequate-duration medication treatments, and 36 healthy controls. Plasma, urine, and CSF metabolic profiling were performed by coupled gas chromatography/mass spectrometry, and high-performance liquid chromatography, electrospray ionization, tandem mass spectrometry. Results: Abnormalities were identified in 67 of 141 treatment refractory depression participants. The CSF abnormalities included: low cerebral folate (n = 20), low tetrahydrobiopterin intermediates (n = 11), and borderline low-tetrahydrobiopterin intermediates (n = 20). Serum abnormalities included abnormal acylcarnitine profile (n = 12) and abnormal serum amino acids (n = 20). Eighteen patients presented with two or more abnormal metabolic findings. Sixteen patients with cerebral folate deficiency and seven with low tetrahydrobiopterin intermediates in CSF showed improvement in depression symptom inventories after treatment with folinic acid and sapropterin, respectively. No healthy controls had a metabolite abnormality. Conclusions: Examination of metabolic disorders in treatment refractory depression identified an unexpectedly large proportion of patients with potentially treatable abnormalities. The etiology of these abnormalities and their potential roles in pathogenesis remain to be determined. [ABSTRACT FROM AUTHOR]

Published
2023
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21. Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior

Author

Pan, Lisa A., primary, Segreti, Anna Maria, additional, Wrobleski, Joseph, additional, Shaw, Annie, additional, Hyland, Keith, additional, Hughes, Marion, additional, Finegold, David N., additional, Naviaux, Robert K., additional, Brent, David A., additional, Vockley, Jerry, additional, and Peters, David G., additional

Published
2022
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27. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Author

Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, and Maher, Eamonn R

Published
2011
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33. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Author

Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., 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., and Kurian, Manju A.

Published
2014
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34. Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]

Author

Himmelreich, Nastassja, primary, Montioli, Riccardo, additional, Bertoldi, Mariarita, additional, Carducci, Carla, additional, Leuzzi, Vincenzo, additional, Gemperle, Corinne, additional, Berner, Todd, additional, Hyland, Keith, additional, Thöny, Beat, additional, Hoffmann, Georg F., additional, Voltattorni, Carla B., additional, and Blau, Nenad, additional

Published
2021
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38. Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury

Author

Wang, Chao-Hung, Li, Shu-Hong, Weisel, Richard D., Fedak, Paul W.M., Hung, Agnes, Li, Ren-Ke, Rao, Vivek, Hyland, Keith, Cherng, Wen-Jin, Errett, Lee, Leclerc, Yves, Bonneau, Daniel, Latter, David A., and Verma, Subodh

Subjects
Blood circulation disorders, Nitric oxide, Enzymes, Biological sciences
Abstract

Decreased levels of tetrahydrobiopterin (BH4), an absolute cofactor for nitric oxide synthase (NOS), lead to uncoupling of NOS into a superoxide v. nitric oxide producing enzyme, and it is this uncoupling that links it to the development of vascular disease. However, the effects of in vivo deficiency of BH4 on neointimal formation after vascular injury have not been previously investigated. Hph-1 mice, which display 90% deficiency in guanine triphosphate cyclohydrolase I, the rate limiting enzyme in BH4 synthesis, were used. Hph-1 and wild-type mice, treated with either vehicle or BH4 (n = 15 per group), were subjected to wire-induced femoral artery injury, and NOS expression and activity, inflammation, cell proliferation, superoxide production, and neointimal formation were assessed. The major form of NOS expressed over vessel wall after vascular injury was endothelial NOS. Hph-1 mice exhibited lower NOS activity (2.8 [+ or -] 0.3 vs. 4.5 [+ or -] 0.4 pmol/min/mg protein, P < 0.01), and higher aortic superoxide content (5.2 [+ or -] 2.0 x [10.sup.5] cpm vs. 1.6 [+ or -] 0.7 X [10.sup.5] cpm, P < 0.01) compared with wild-type controls, indicating uncoupling of NOS. Treatment of hph-1 mice with BH4 significantly increased NOS activity (from 2.8 [+ or -] 0.3 to 4.1 [+ or -] 0.4 pmol * [min.sup.-1] * mg [protein.sup.-1], P < 0.05), and attenuated superoxide production (from 5.2 [+ or -] 2.0 X [10.sup.5] cpm to 0.8 [+ or -] 0.7 X [10.sup.5] cpm, P < 0.05). Hph-1 mice also had higher inflammatory reactions and more cell proliferation after vascular injury. Furthermore, hph-1 mice responded by a marked increase in neointimal formation at 4 wk after vascular injury, compared with wild-type controls (intima:media ratio: 4.5 [+ or -] 0.5 vs. wild-type 0.7 [+ or -] 0.1, P < 0.001). Treatment of hph-1 mice with BH4 prevented vascular injury-induced increase in neointimal formation (intima:media ratio: 1.4 [+ or -] 0.1 vs. hph-l, P < 0.001). Treatment had no effect on wild-type controls. In summary, we describe, for the first time, that in vivo BH4 deficiency facilitates neointimal formation after vascular injury. Modulation of BH4 bioavailability is an important therapeutic target for restenosis. restenosis, superoxide; nitric oxide synthase

Published
2005

41. List of Contributors

Author

Abdala, Ana P.L., primary, Adams, David H., additional, Alvarenga, Marlies, additional, Arnold, Amy C., additional, Axelrod, Felicia B., additional, Barbic, Franca, additional, Barnes, Peter J., additional, Bauer, Deborah, additional, Bell, Christopher, additional, Benarroch, Eduardo E., additional, Berry-Kravis, Elizabeth M., additional, Bernardi, Luciano, additional, Biaggioni, Italo, additional, Birder, Lori, additional, Brooks, Virginia L., additional, Heller Brown, Joan, additional, Burnstock, Geoffrey, additional, Camilleri, Michael, additional, Campbell, J.Preston, additional, Carey, Robert M., additional, Caron, Marc G., additional, Carter, Calvin, additional, Cassaglia, Priscila A., additional, Castillo, Javier G., additional, Chapleau, Mark W., additional, Charkoudian, Nisha, additional, David Charles, P., additional, Chelimsky, Gisela, additional, Chelimsky, Thomas, additional, Cheng, Pei-Wen, additional, Clément, Gilles, additional, Cortelli, Pietro, additional, Cowley, Allen W., additional, Crews, Leslie, additional, Davis, Stephen N., additional, Davis, Thomas L., additional, de Groat, William C., additional, DeMarco, Vincent G., additional, Diedrich, André, additional, DiPette, Donald J., additional, Diz, Debra I., additional, Drake, Marcus J., additional, Drew, Rachel C., additional, Dütsch, Matthias, additional, Eisenhofer, Graeme, additional, Elefteriou, Florent, additional, Elijovich, Fernando, additional, English, Brett A., additional, Esler, Murray, additional, Fang, John Y., additional, Fealey, Robert D., additional, Fernandez, Stanley, additional, Fink, Gregory D., additional, Floras, John S., additional, Freeman, Roy, additional, Fu, Qi, additional, Fu, Liang-Wu, additional, Furlan, Raffaello, additional, Gamboa, Alfredo, additional, Garland, Emily M., additional, Gibbons, Christopher H., additional, Gilbey, Michael P., additional, Gilden, Janice L., additional, Gilman, Sid, additional, Goldstein, David S., additional, Golombek, Diego A., additional, Graham, Robert M., additional, Grassi, Guido, additional, Grier, Mark D., additional, Groothuis, Jan T., additional, Grubb, Blair P., additional, Hahn, Maureen K., additional, Halcox, Julian P.J., additional, Hamill, Robert W., additional, Hande, Kenneth R., additional, Harati, Yadollah, additional, Harrison, David G., additional, Hart, Emma C., additional, Hastings, Jacqui, additional, Henderson, Luke A., additional, Hilz, Max J., additional, Hoeldtke, Robert, additional, Ho, Shung Tai, additional, Hunter, Peter, additional, Hyland, Keith, additional, Hyland, Lauren, additional, Izadyar, Shahram, additional, Izzo, Joseph L., additional, Jackson, Edwin K., additional, Jacob, Giris, additional, Jänig, Wilfrid, additional, Johnson, Megan S., additional, Jones, Carrie K., additional, Jones, James F.X., additional, Joos, Karen M., additional, Jordan, Jens, additional, Joyner, Michael J., additional, Kaler, Stephen G., additional, Kasparov, Sergey, additional, Kaufmann, Horacio, additional, Kaye, David, additional, Khurana, Ramesh K., additional, Kim, Chun-Hyung, additional, Kim, Kwang-Soo, additional, Kobayashi, Kazuto, additional, Kuntz, Nancy L., additional, Konecny, Tomas, additional, Kontak, Andrew, additional, Laffer, Cheryl L., additional, Lagrange, Andre H., additional, Laiken, Nora, additional, Lambert, Gavin, additional, Lenders, Jacques W.M., additional, Levine, Benjamin D., additional, Lipsitz, Lewis A., additional, Lombard, Julian H., additional, Longhurst, John C., additional, Low, David A., additional, Low, Phillip A., additional, Lu, Chih Cherng, additional, Luther, James M., additional, Macefield, Vaughan G., additional, McCully, Belinda H., additional, McLeod, James G., additional, Manger, William M., additional, Mano, Tadaaki, additional, Marvar, Paul J., additional, Masliah, Eliezer, additional, Mathias, Christopher J., additional, Melson, Mark R., additional, Milam, Douglas F., additional, Mohl, Marion C., additional, Molkov, Yaroslav I., additional, Morris, Margaret, additional, Morrison, Shaun F., additional, Nagatsu, Toshiharu, additional, Nichols, Charles D., additional, Norcliffe-Kaufmann, Lucy, additional, Novak, Vera, additional, Okamoto, Luis E., additional, Osborn, John W., additional, Parsons, Brian A., additional, Paton, Julian F.R., additional, Patwari, Pallavi P., additional, Phan, Cecile L., additional, Phibbs, Fenna T., additional, Prabhakar, Nanduri R., additional, Peltier, Amanda C., additional, Peterson, Sean M., additional, Pickering, Anthony E, additional, Pratt, J.Howard, additional, Rahmouni, Kamal, additional, Raj, Satish R., additional, Rand, Casey M., additional, Reichmann, Heinz, additional, Richards, Jeff, additional, Roberts, L.Jackson, additional, Robertson, David W., additional, Robertson, Rose Marie, additional, Robinson, Michael, additional, Rybak, Ilya A., additional, Sanders-Bush, Elaine, additional, Sandroni, Paola, additional, Sato, Kyoko, additional, Sato, Takayuki, additional, Schatz, Irwin J., additional, Schiffrin, Ernesto L., additional, Schondorf, Ronald, additional, Schwarz, Rosemary, additional, Seravalle, Gino, additional, Shapiro, Robert E., additional, Shibao, Cyndya, additional, Somers, Virend, additional, Stampfer, Michaela, additional, Stein, C.Michael, additional, Stemberger, Sylvia, additional, Stewart, Julian, additional, Sinoway, Lawrence I., additional, Sowers, James R., additional, Srikakarlapudi, Sirisha, additional, Sunagawa, Kenji, additional, Supowit, Scott C., additional, Taylor, Palmer, additional, Thompson, Jane, additional, Thijs, Roland D., additional, Touyz, Rhian M, additional, Tranel, Daniel, additional, Trikudanathan, Subbulaxmi, additional, Tseng, Ching-Jiunn, additional, Tung, Che-Se, additional, Ubhi, Kiren, additional, Urs, Nikhil, additional, Verbalis, Joseph G., additional, Vernino, Steven, additional, Victor, Ronald G., additional, Vizzard, Margaret A., additional, Vongpatanasin, Wanpen, additional, Wallin, B.Gunnar, additional, Wang, Tobias, additional, Wang, Qin, additional, Webster, Andrew A., additional, Weese-Mayer, Debra E., additional, Wenning, Gregor K., additional, Whaley-Connell, Adam, additional, Wieling, Wouter, additional, Williams, Gordon H., additional, Wood, Scott, additional, Ziegler, Michael G., additional, and Zoccal, Daniel B., additional

Published
2012
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48. Sepiapterin Reductase Deficiency: A Treatable Mimic of Cerebral Palsy

Author

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, and Blau, Nenad

Published
2012
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49. Identification of novel biomarkers for pyridoxine-dependent epilepsy using untargeted metabolomics and infrared ion spectroscopy - biochemical insights and clinical implications

Author

Engelke, Udo F.H., primary, van Outersterp, Rianne E., additional, Merx, Jona, additional, van Geenen, Fred A.M.G., additional, van Rooij, Arno, additional, Berden, Giel, additional, Huigen, Marleen C.D.G., additional, Kluijtmans, Leo A.J., additional, Peters, Tessa M.A., additional, Al-Shekaili, Hilal H., additional, Leavitt, Blair R., additional, de Vrieze, Erik, additional, Broekman, Sanne, additional, van Wijk, Erwin, additional, Tseng, Laura A., additional, Kulkarni, Purva, additional, Rutjes, Floris P.J.T., additional, Mecinović, Jasmin, additional, Struys, Eduard A., additional, Jansen, Laura A., additional, Gospe, Sidney M., additional, Mercimek-Andrews, Saadet, additional, Hyland, Keith, additional, Willemsen, Michèl A.A.P., additional, Bok, Levinus A., additional, van Karnebeek, Clara D.M., additional, Wevers, Ron A., additional, Boltje, Thomas J., additional, Oomens, Jos, additional, Martens, Jonathan, additional, and Coene, Karlien L.M., additional

Published
2021
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