Results 71 to 80 of about 2,204 (208)

The Concise Guide to PHARMACOLOGY 2015/16:Enzymes [PDF]

, 2015
The Concise Guide to PHARMACOLOGY 2015/16 provides concise overviews of the key properties of over 1750 human drug targets with their pharmacology, plus links to an open access knowledgebase of drug targets and their ligands (www.guidetopharmacology.org),
Aldrich, R, Alexander, SPH, Attali, B, Back, M, Barnes, NM, Bathgate, R, Beart, PM, Becirovic, E, Benson, HE, Biel, M, Birdsall, NJ, Boison, D, Brauner-Osborne, H, Broeer, S, Bryant, C, Burnstock, G, Burris, T, Cain, D, Calo, G, Chan, SL, Chandy, KG, Chiang, N, Christakos, S, Christopoulos, A, Chun, JJ, Chung, J-J, Clapham, DE, Connor, MA, Coons, L, Cox, HM, Dautzenberg, FM, Davies, JA, Dent, G, Douglas, SD, Dubocovich, ML, Edwards, DP, Fabbro, D, Faccenda, E, Farndale, R, Fong, TM, Forrest, D, Fowler, CJ, Fuller, P, Gainetdinov, RR, Gershengorn, MA, Goldin, A, Goldstein, SAN, Grimm, SL, Grissmer, S, Gundlach, AL, Hagenbuch, B, Hammond, JR, Hancox, JC, Hartig, S, Hauger, RL, Hay, DL, Hebert, T, Hollenberg, AN, Holliday, ND, Hoyer, D, Ijzerman, AP, Inui, KI, Ishii, S, Jacobson, KA, Jan, LY, Jarvis, GE, Jensen, R, Jetten, A, Jockers, R, Kaczmarek, LK, Kanai, Y, Kang, HS, Karnik, S, Kelly, E, Kerr, ID, Korach, KS, Lange, CA, Larhammar, D, Leeb-Lundberg, F, Leurs, R, Lolait, SJ, Macewan, D, Maguire, JJ, Marrion, N, May, JM, Mazella, J, McArdle, CA, McDonnell, DP, Michel, MC, Miller, LJ, Mitolo, V, Monie, T, Monk, PN, Mouillac, B, Murphy, PM, Nahon, J-L, Nerbonne, J, Nichols, CG, Norel, X, Oakley, R, Offermanns, S, Palmer, LG, Panaro, MA, Pawson, AJ, Perez-Reyes, E, Pertwee, RG, Peters, JA, Pike, JW, Pin, JP, Pintor, S, Plant, LD, Poyner, DR, Prossnitz, ER, Pyne, S, Ren, D, Richer, JK, Rondard, P, Ross, RA, Sackin, H, Safi, R, Sanguinetti, MC, Sartorius, CA, Segaloff, DL, Sharman, JL, Sladek, FM, Southan, C, Stewart, G, Stoddart, LA, Striessnig, J, Summers, RJ, Takeda, Y, Tetel, M, Toll, L, Trimmer, JS, Tsai, M-J, Tsai, SY, Tucker, S, Usdin, TB, Vilargada, J-P, Vore, M, Ward, DT, Waxman, SG, Webb, P, Wei, AD, Weigel, N, Willars, GB, Winrow, C, Wong, SS, Wulff, H, Ye, RD, Young, M, Zajac, J-M   +151 more
core   +4 more sources

Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients

American Journal of Medical Genetics Part A, Volume 197, Issue 2, February 2025.
ABSTRACT Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association ...
Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker   +6 more
wiley   +1 more source

Development of a practical dietitian road map for the nutritional management of phenylketonuria (PKU) patients on pegvaliase [PDF]

, 2021
Funding Information: Outside the submitted work, the authors disclose the following. Bausell H received personal fees from BioMarin, Ultragenyx, Horizon and Vitaflo.
Bausell, Heather, Bernstein, Laurie, Bélanger-Quintana, Amaya, Gökmen-Özel, Hülya, Heddrich-Ellerbrok, Margret, Jung, Alexandra, MacDonald, Anita, Rocha, Júlio César, Rohr, Fran, van Dam, Esther   +9 more
core   +3 more sources

Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil [PDF]

, 2019
Background: Genetic heterogeneity and compound heterozygosis give rise to a continuous spectrum of phenylalanine hydroxylase deficiency and metabolic phenotypes in phenylketonuria (PKU).
Carvalho, L., Lacerda, L., Laranjeira, F., Mineiro, N., Quelhas, D., Ribeiro, I., Ribeiro, M., Seabra, A., Vieira Neto, Eduardo   +8 more
core   +1 more source

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran

Molecular Genetics and Metabolism Reports, 2015
To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in ...
Aria Setoodeh, Bahram Yarali, Ali Rabbani, Shohreh Khatami, Sedigheh Shams   +4 more
doaj   +1 more source

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda, Fernández Ramos, Joaquín A., Friedman, Jennifer, Garcia Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, Jeltsch, Kathrin, Jung Klawitter, Sabine, Kurian, Manju A., Kuseyri, Oya, Lopez Laso, Eduardo, MASTRANGELO, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl Bürgi, Sabine, Wassenberg, Tessa   +16 more
core   +1 more source

Effect of BH4 on blood phenylalanine and tyrosine variations in patients with phenylketonuria [PDF]

, 2021
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Burgerhof, JGM, de Vries, MC, Evers, RAF, Heiner-Fokkema, M R, Janssen, MCH, van Dam, E, van Spronsen, F J, van Wegberg, AMJ   +7 more
core   +1 more source

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Alterations in brain structure are frequently observed in adults with early‐treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary elevation of phenylalanine (Phe) levels impacts WM remains unclear.
Raphaela Muri, Murray Bruce Reed, Stephanie Maissen‐Abgottspon, Roland Kreis, Michel Hochuli, Rupert Lanzenberger, Roman Trepp, Regula Everts   +7 more
wiley   +1 more source

A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria [PDF]

, 2012
Dietary management is the mainstay of effective treatment in PKU, but dietary restriction is difficult and additional treatment options are needed.To systematically review evidence regarding sapropterin (BH4) use as an adjunct to dietary restriction in individuals with PKU.Five databases including MEDLINE up to August 2011.Two reviewers independently ...
Shanthi Krishnaswami, Tyler Reimschisel, Nila A Sathe, Christopher Fonnesbeck, Mary Lou Lindegren, Melissa L McPheeters   +5 more
openaire   +3 more sources

Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses

Molecular Genetics and Metabolism Reports, 2022
In 2018, pegvaliase was approved as the first enzyme substitution treatment for phenylketonuria (PKU) and is now the second medication available for PKU patients since the approval of sapropterin dihydrochloride in 2007.
Erika R. Vucko, Kirsten E. Havens, Joshua J. Baker, Barbara K. Burton   +3 more
doaj