Longitudinal changes and correlates of meeting WHO recommended levels of physical activity in the UK during the COVID-19 pandemic: Findings from the HEBECO study
Mitchell, John J, Dicken, Samuel J, Kale, Dimitra, Herbec, Aleksandra, Beard, Emma, Shahab, Lion
Published in PloS one (24.08.2022)
Published in PloS one (24.08.2022)
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Journal Article
Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses
Shapiro, Elsa G., Escolar, Maria L., Delaney, Kathleen A., Mitchell, John J.
Published in Molecular genetics and metabolism (01.12.2017)
Published in Molecular genetics and metabolism (01.12.2017)
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Journal Article
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (13.06.2019)
Published in Orphanet journal of rare diseases (13.06.2019)
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Journal Article
UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses
Auray-Blais, Christiane, Lavoie, Pamela, Tomatsu, Shunji, Valayannopoulos, Vassili, Mitchell, John J., Raiman, Julian, Beaudoin, Maxime, Maranda, Bruno, Clarke, Joe T.R.
Published in Analytica chimica acta (14.09.2016)
Published in Analytica chimica acta (14.09.2016)
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Journal Article
Peroxisome disruption alters lipid metabolism and potentiates antitumor response with MAPK-targeted therapy in melanoma
Huang, Fan, Cai, Feiyang, Dahabieh, Michael S, Gunawardena, Kshemaka, Talebi, Ali, Dehairs, Jonas, El-Turk, Farah, Park, Jae Yeon, Li, Mengqi, Goncalves, Christophe, Gagnon, Natascha, Su, Jie, LaPierre, Judith H, Gaub, Perrine, Joyal, Jean-Sebastien, Mitchell, John J, Swinnen, Johannes V, Miller, Wilson H., Jr, del Rincon, Sonia V
Published in The Journal of clinical investigation (15.10.2023)
Published in The Journal of clinical investigation (15.10.2023)
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Journal Article
Impact of COVID-19 Pandemic on Weight and BMI among UK Adults: A Longitudinal Analysis of Data from the HEBECO Study
Dicken, Samuel J, Mitchell, John J, Newberry Le Vay, Jessica, Beard, Emma, Kale, Dimitra, Herbec, Aleksandra, Shahab, Lion
Published in Nutrients (24.08.2021)
Published in Nutrients (24.08.2021)
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Journal Article
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
Qin, Lan, Wang, Jing, Tian, Xia, Yu, Hui, Truong, Cavatina, Mitchell, John J, Wierenga, Klaas J, Craigen, William J, Zhang, Victor Wei, Wong, Lee-Jun C
Published in The Journal of molecular diagnostics : JMD (01.05.2016)
Published in The Journal of molecular diagnostics : JMD (01.05.2016)
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Journal Article
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
Howie, Alison H, Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J, Angel, Kim, Gentle, Jenifer, Smith, Maureen, Offringa, Martin, Butcher, Nancy J, Campeau, Philippe M, Chakraborty, Pranesh, Chan, Alicia, Fergusson, Dean, Mamak, Eva, McClelland, Peyton, Mercimek-Andrews, Saadet, Mhanni, Aizeddin, Moazin, Zeinab, Rockman-Greenberg, Cheryl, Rupar, C Anthony, Skidmore, Becky, Stockler, Sylvia, Thavorn, Kednapa, Wyatt, Alexandra, Potter, Beth K
Published in Orphanet journal of rare diseases (23.10.2024)
Published in Orphanet journal of rare diseases (23.10.2024)
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Journal Article
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (29.05.2019)
Published in Orphanet journal of rare diseases (29.05.2019)
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Journal Article
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
Ho, Gladys, Yonezawa, Atsushi, Masuda, Satohiro, Inui, Ken-ichi, Sim, Keow G., Carpenter, Kevin, Olsen, Rikke K.J., Mitchell, John J., Rhead, William J., Peters, Gregory, Christodoulou, John
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article
Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases
Tingley, Kylie, Coyle, Doug, Graham, Ian D, Sikora, Lindsey, Chakraborty, Pranesh, Wilson, Kumanan, Mitchell, John J, Stockler-Ipsiroglu, Sylvia, Potter, Beth K
Published in Orphanet journal of rare diseases (28.06.2018)
Published in Orphanet journal of rare diseases (28.06.2018)
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Journal Article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
Howie, Alison H, Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J, Butcher, Nancy J, Offringa, Martin, Smith, Maureen, Angel, Kim, Gentle, Jenifer, Wyatt, Alexandra, Campeau, Philippe M, Chan, Alicia, Chakraborty, Pranesh, El Turk, Farah, Mamak, Eva, Mhanni, Aizeddin, Skidmore, Becky, Sparkes, Rebecca, Stockler, Sylvia, Potter, Beth K
Published in Current controlled trials in cardiovascular medicine (17.11.2021)
Published in Current controlled trials in cardiovascular medicine (17.11.2021)
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Journal Article
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys
Howie, Alison H, Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J, Butcher, Nancy J, Offringa, Martin, Smith, Maureen, Angel, Kim, Gentle, Jenifer, Wyatt, Alexandra, Campeau, Philippe M, Chan, Alicia, Chakraborty, Pranesh, El Turk, Farah, Mamak, Eva, Mhanni, Aizeddin, Skidmore, Becky, Sparkes, Rebecca, Stockler, Sylvia, Potter, Beth K
Published in Current controlled trials in cardiovascular medicine (09.12.2021)
Published in Current controlled trials in cardiovascular medicine (09.12.2021)
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Journal Article
Molecular Mechanism of Insulin-Induced Degradation of Insulin Receptor Substrate 1
Zhande, Rachel, Mitchell, John J., Wu, Jiong, Sun, Xiao Jian
Published in Molecular and Cellular Biology (01.02.2002)
Published in Molecular and Cellular Biology (01.02.2002)
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Journal Article
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys
Potter, Beth K, Hutton, Brian, Clifford, Tammy J, Pallone, Nicole, Smith, Maureen, Stockler, Sylvia, Chakraborty, Pranesh, Barbeau, Pauline, Garritty, Chantelle M, Pugliese, Michael, Rahman, Alvi, Skidmore, Becky, Tessier, Laure, Tingley, Kylie, Coyle, Doug, Greenberg, Cheryl R, Korngut, Lawrence, MacKenzie, Alex, Mitchell, John J, Nicholls, Stuart, Offringa, Martin, Schulze, Andreas, Taljaard, Monica
Published in Current controlled trials in cardiovascular medicine (19.12.2017)
Published in Current controlled trials in cardiovascular medicine (19.12.2017)
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Journal Article
Phenylalanine hydroxylase deficiency
Mitchell, John J, Trakadis, Yannis J, Scriver, Charles R
Published in Genetics in medicine (01.08.2011)
Published in Genetics in medicine (01.08.2011)
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Journal Article