Cardiac Complications of Propionic and Other Inherited Organic Acidemias von Park, Kyung Chan, Krywawych, Steve, Richard, Eva, Desviat, Lourdes R, Swietach, Pawel

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TPL-2-mediated activation of MAPK downstream of TLR4 signaling is coupled to arginine availability von Mieulet, Virginie, Yan, Lijun, Choisy, Caroline, Sully, Katherine, Procter, Julia, Kouroumalis, Andreas, Krywawych, Steve, Pende, Mario, Ley, Steven C, Moinard, Christophe, Lamb, Richard F

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Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: Prevalence, predictive value and test validity based on 1.5 million screened babies von Oerton, Juliet, Khalid, Javaria M, Besley, Guy, Dalton, R Neil, Downing, Melanie, Green, Anne, Henderson, Mick, Krywawych, Steve, Leonard, James, Andresen, Brage S, Dezateux, Carol

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Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration von Loupatty, Ference J., Clayton, Peter T., Ruiter, Jos P.N., Ofman, Rob, IJlst, Lodewijk, Brown, Garry K., Thorburn, David R., Harris, Robert A., Duran, Marinus, DeSousa, Carlos, Krywawych, Steve, Heales, Simon J.R., Wanders, Ronald J.A.

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Elevated propionate/propionyl-CoA signalling drives Pde9a overexpression and contractile dysfunction through increased histone acetylation and propionylation von Park, Kyung Chan, Crump, Nicholas, Hulikova, Alzbeta, Louwman, Niamh, Ford, Kerrie, Hauton, David, Koschinski, Andreas, McCullagh, James, Zaccolo, Manuela, Krywawych, Steve, Milne, Thomas, Swietach, Pawel

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GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification von Knöpfel, Nicole, Zecchin, Davide, Richardson, Hanna, Polubothu, Satyamaanasa, Barberan-Martin, Sara, Cullup, Thomas, Gholam, Karolina, Heales, Simon, Krywawych, Steve, López-Balboa, Pablo, Muwanga-Nanyonjo, Noreen, Ogunbiyi, Olumide, Puvirajasinghe, Clinda, Solman, Lea, Swarbrick, Katherine, Syed, Samira B., Tahir, Zubair, Tisdall, Martin M., Allgrove, Jeremy, Chesover, Alexander D., Aylett, Sarah E., Jacques, Thomas S., Hannan, Fadil M., Löbel, Ulrike, Semple, Robert K., Thakker, Rajesh V., Kinsler, Veronica A.

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Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion von Clayton, P T, Eaton, S, Aynsley-Green, A, Edginton, M, Hussain, K, Krywawych, S, Datta, V, Malingre, H E, Berger, R, van den Berg, I E

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Disrupted propionate metabolism evokes transcriptional changes in the heart by increasing histone acetylation and propionylation von Park, Kyung Chan, Crump, Nicholas T, Louwman, Niamh, Krywawych, Steve, Cheong, Yuen Jian, Vendrell, Iolanda, Gill, Eleanor K, Gunadasa-Rohling, Mala, Ford, Kerrie L, Hauton, David, Fournier, Marjorie, Pires, Elisabete, Watson, Lydia, Roseman, Gerald, Holder, James, Koschinski, Andreas, Carnicer, Ricardo, Curtis, M Kate, Zaccolo, Manuela, Hulikova, Alzbeta, Fischer, Roman, Kramer, Holger B, McCullagh, James S O, Trefely, Sophie, Milne, Thomas A, Swietach, Pawel

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Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene von Hussain, Khalid, Clayton, Peter T., Krywawych, Steve, Chatziandreou, Ilenia, Mills, Phillipa, Ginbey, D.W., Geboers, Ans J.J.M., Berger, Ruud, van den Berg, Inge E.T., Eaton, Simon

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An Adult with Type 2 Citrullinemia Presenting in Europe von Soon, Derek, Paradies, Eleonora, Lee, Philip J, Krywawych, Steve, Lachmann, Robin H, Fiermonte, Giuseppe, Palmieri, Ferdinando, Chaudhuri, Abhijit

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Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency von KHALID, Javaria M, OERTON, Juliet, DEZATEUX, Carol, BESLEY, Guy, DALTON, Neil, DOWNING, Melanie, GREEN, Anne, HENDERSON, Mick, KRYWAWYCH, Steve, WILEY, Veronica, WILCKEN, Bridget

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Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death von Pryce, Jeremy W., Weber, Martin A., Heales, Simon, Krywawych, Steve, Ashworth, Michael T., Klein, Nigel J., Sebire, Neil J.

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GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification von Knöpfel, Nicole, Zecchin, Davide, Richardson, Hanna, Polubothu, Satyamaanasa, Barberan-Martin, Sara, Cullup, Thomas, Gholam, Karolina, Heales, Simon, Krywawych, Steve, López-Balboa, Pablo, Muwanga-Nanyonjo, Noreen, Ogunbiyi, Olumide, Puvirajasinghe, Clinda, Solman, Lea, Swarbrick, Katherine, Syed, Samira B, Tahir, Zubair, Tisdall, Martin M, Allgrove, Jeremy, Chesover, Alexander D, Aylett, Sarah E, Jacques, Thomas S, Hannan, Fadil M, Löbel, Ulrike, Semple, Robert K, Thakker, Rajesh V, Kinsler, Veronica A

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Homozygous thermolabile variant of the methylenetetrahy‐drofolate reductase gene: a potential risk factor for hyperhomo‐cysteinaemia, CVD, and stroke in childhood von Prengler, Mara, Sturt, Natalie, Krywawych, Steve, Surtees, Robert, Liesner, Raina, Kirkham, Fenella

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Homozygous thermolabile variant of the methylenetetrahy-drofolate reductase gene: a potential risk factor for hyperhomo-cysteinaemia, CVD, and stroke in childhood von Prengler, Mara, Sturt, Natalie, Krywawych, Steve, Surtees, Robert, Liesner, Raina, Kirkham, Fenella

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An adult with type 2 citrullinemia presenting in Europe von Fiermonte, Giuseppe, Soon, Derek, Chaudhuri, Abhijit, Paradies, Eleonora, Lee, Philip J, Krywawych, Steve, Palmieri, Ferdinando, Lachmann, Robin H

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