Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa

por Meldau, Surita, Fratter, Carl, Bhengu, Louisa Ntombenhle, Sergeant, Kate, Khan, Kashief, Riordan, Gillian Tracy, Berman, Peter Allan Minham
Publicado 2020

Use of FGF-21 as a Biomarker of Mitochondrial Disease in Clinical Practice

por Morovat, Alireza, Weerasinghe, Gayani, Nesbitt, Victoria, Hofer, Monika, Agnew, Thomas, Quaghebeur, Geralrine, Sergeant, Kate, Fratter, Carl, Guha, Nishan, Mirzazadeh, Mehdi, Poulton, Joanna
Publicado 2017

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

por Mavraki, Eleni, Labrum, Robyn, Sergeant, Kate, Alston, Charlotte L., Woodward, Cathy, Smith, Conrad, Knowles, Charlotte V. Y., Patel, Yogen, Hodsdon, Philip, Baines, Jack P., Blakely, Emma L., Polke, James, Taylor, Robert W., Fratter, Carl
Publicado 2022

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

por Rosenberger, Florian A, Tang, Jia Xin, Sergeant, Kate, Moedas, Marco F, Zierz, Charlotte M, Moore, David, Smith, Conrad, Lewis, David, Guha, Nishan, Hopton, Sila, Falkous, Gavin, Lam, Amanda, Pyle, Angela, Poulton, Joanna, Gorman, Gráinne S, Taylor, Robert W, Freyer, Christoph, Wredenberg, Anna
Publicado 2022

Reevaluation of the South Asian MYBPC3(Δ25bp) Intronic Deletion in Hypertrophic Cardiomyopathy

por Harper, Andrew R., Bowman, Michael, Hayesmoore, Jesse B.G., Sage, Helen, Salatino, Silvia, Blair, Edward, Campbell, Carolyn, Currie, Bethany, Goel, Anuj, McGuire, Karen, Ormondroyd, Elizabeth, Sergeant, Kate, Waring, Adam, Woodley, Jessica, Kramer, Christopher M., Neubauer, Stefan, Farrall, Martin, Watkins, Hugh, Thomson, Kate L.
Publicado 2020

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

por Magrinelli, Francesca, Cali, Elisa, Braga, Vinícius Lopes, Yis, Uluç, Tomoum, Hoda, Shamseldin, Hanan, Raiman, Julian, Kernstock, Christoph, Rezende Filho, Flávio Moura, Barsottini, Orlando Graziani Povoas, Taylor, Robert W., Østergaard, Elsebet, Tamim, Abdullah, Schäferhoff, Karin, Sallum, Juliana Maria Ferraz, Zaki, Maha S., Kok, Fernando, Bhatia, Kailash P., Wissinger, Bernd, Sergeant, Kate, Haack, Tobias B., Horvath, Rita, Hiz, Semra, Alkuraya, Fowzan S., Houlden, Henry, Pedroso, José Luiz, Maroofian, Reza
Publicado 2022

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

por Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, Wolfe, Lynne, Novacic, Danica, Greenbaum, Lior, Eliyahu, Aviva, Barel, Ortal, Anikster, Yair, McFarland, Robert, Gorman, Gráinne S, Schaefer, Andrew M, Gustafsson, Claes M, Taylor, Robert W, Falkenberg, Maria, Nicholls, Thomas J
Publicado 2023