未登录 分享 收藏
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders Wahedi, Azizia; Sudhakar, Sniya; Lam, Amanda; Ciancio, Jose Ignacio Rodriguez; Mills, Philippa; Gissen, Paul; Gardham, Alice; Kapadia, Jogesh; Hassell, Jane; Heales, Simon; Rahman, Shamima 分享 收藏
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome Falabella, Micol; Pizzamiglio, Chiara; Tabara, Luis Carlos; Munro, Benjamin; Abdel-Hamid, Mohamed S.; Sonmezler, Ece; Macken, William L.; Lu, Shanti; Tilokani, Lisa; Flannery, Padraig J.; Patel, Nina; Pope, Simon A. S.; Heales, Simon J. R.; Hammadi, Dania B. H.; Alston, Charlotte L.; Taylor, Robert W.; Lochmuller, Hanns; Woodward, Cathy E.; Labrum, Robyn; Vandrovcova, Jana; Houlden, Henry; Chronopoulou, Efstathia; Pierre, Germaine; Maroofian, Reza; Hanna, Michael G.; Taanman, Jan-Willem; Hiz, Semra; Oktay, Yavuz; Zaki, Maha S.; Horvath, Rita; Prudent, Julien; Pitceathly, Robert D. S. 分享 收藏
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification Knopfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; Heales, Simon; Krywawych, Steve; Lopez-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.; Lobel, Ulrike; Semple, Robert K.; Thakker, Rajesh V.; Kinsler, Veronica A. 分享 收藏
Changes in enzymatic activity of alpha galactosidase A in patients with Fabry disease treated with an oral chaperone therapy Kugan, Mathura; D'Amore, Simona; Burke, Derek G.; Mitra, Udita; Patel, Sneha; Mckie, Mark A.; Cabides, Jasmen; Hughes, Derralynn; Ebrahim, Hatim Y.; Heales, Simon; Ramaswami, Uma 分享 收藏
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria Gurung, Sonam; Timmermand, Oskar Vilhelmsson; Perocheau, Dany; Gil-Martinez, Ana Luisa; Minnion, Magdalena; Touramanidou, Loukia; Fang, Sherry; Messina, Martina; Khalil, Youssef; Spiewak, Justyna; Barber, Abigail R.; Edwards, Richard S.; Pinto, Patricia Lipari; Finn, Patrick F.; Cavedon, Alex; Siddiqui, Summar; Rice, Lisa; Martini, Paolo G. V.; Ridout, Deborah; Heywood, Wendy; Hargreaves, Ian; Heales, Simon; Mills, Philippa B.; Waddington, Simon N.; Gissen, Paul; Eaton, Simon; Ryten, Mina; Feelisch, Martin; Frassetto, Andrea; Witney, Timothy H.; Baruteau, Julien 分享 收藏
A pilot study of alternative substrates in the critically Ill subject using a ketogenic feed 使用生酮饲料对重症患者的替代底物进行的初步研究 Mcnelly, Angela; Langan, Anne; Bear, Danielle E.; Page, Alexandria; Martin, Tim; Seidu, Fatima; Santos, Filipa; Rooney, Kieron; Liang, Kaifeng; Heales, Simon J.; Baldwin, Tomas; Alldritt, Isabelle; Crossland, Hannah; Atherton, Philip J.; Wilkinson, Daniel; Montgomery, Hugh; Prowle, John; Pearse, Rupert; Eaton, Simon; Puthucheary, Zudin A. 分享 收藏
Reply to Maase et al. Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20 Jones, Simon A.; Cheillan, David; Chakrapani, Anupam; Church, Heather J.; Heales, Simon; Wu, Teresa H. Y.; Morton, Georgina; Roberts, Patricia; Sluys, Erica F.; Burlina, Alberto 分享 收藏
分享 收藏
Mitochondrial dysfunction is a key pathological driver of early stage Parkinson's 线粒体功能障碍是早期帕金森病的关键病理驱动因素 Toomey, Christina E.; Heywood, Wendy E.; Evans, James R.; Lachica, Joanne; Pressey, Sarah N.; Foti, Sandrine C.; Al Shahrani, Mesfer; D'Sa, Karishma; Hargreaves, Iain P.; Heales, Simon; Orford, Michael; Troakes, Claire; Attems, Johannes; Gelpi, Ellen; Palkovits, Miklos; Lashley, Tammaryn; Gentleman, Steve M.; Revesz, Tamas; Mills, Kevin; Gandhi, Sonia 分享 收藏
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes Burlina, Alberto; Jones, Simon A.; Chakrapani, Anupam; Church, Heather J.; Heales, Simon; Wu, Teresa H. Y.; Morton, Georgina; Roberts, Patricia; Sluys, Erica F.; Cheillan, David 分享 收藏
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe Jones, Simon A.; Cheillan, David; Chakrapani, Anupam; Church, Heather J.; Heales, Simon; Wu, Teresa H. Y.; Morton, Georgina; Roberts, Patricia; Sluys, Erica F.; Burlina, Alberto 分享 收藏
Protective effects of medium chain triglyceride diet in a mouse model of Dravet syndrome Jancovski, Nikola; Baldwin, Tomas; Orford, Michael; Li, Melody; Jones, Gabriel Davis; Burbano, Lisseth Estefania; Rutherford, Tricia; Reid, Christopher; Heales, Simon; Eaton, Simon; Petrou, Steven 分享 收藏
K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy K.Vita: 中链甘油三酯混合物治疗耐药性癫痫的可行性研究 Schoeler, Natasha E.; Orford, Michael; Vivekananda, Umesh; Simpson, Zoe; Van de Bor, Baheerathi; Smith, Hannah; Balestrini, Simona; Rutherford, Tricia; Brennan, Erika; McKenna, James; Lambert, Bridget; Barker, Tom; Jackson, Richard; Williams, Robin S. B.; Sisodiya, Sanjay M.; Eaton, Simon; Heales, Simon J. R.; Cross, J. Helen; Walker, Matthew C. 分享 收藏
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima 分享 收藏
Gene therapy restores dopamine transporter expression and ameliorates pathology in iPSC and mouse models of infantile parkinsonism Ng, Joanne; Barral, Serena; Barrigon, Carmen De la Fuente; Lignani, Gabriele; Erdem, Fatma A.; Wallings, Rebecca; Privolizzi, Riccardo; Rossignoli, Giada; Alrashidi, Haya; Heasman, Sonja; Meyer, Esther; Ngoh, Adeline; Pope, Simon; Karda, Rajvinder; Perocheau, Dany; Baruteau, Julien; Suff, Natalie; Diaz, Juan Antinao; Schorge, Stephanie; Vowles, Jane; Marshall, Lucy R.; Cowley, Sally A.; Sucic, Sonja; Freissmuth, Michael; Counsell, John R.; Wade-Martins, Richard; Heales, Simon J. R.; Rahim, Ahad A.; Bencze, Maximilien; Waddington, Simon N.; Kurian, Manju A. 分享 收藏
分享 收藏
分享 收藏
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies (vol 15, 126, 2020) Opladen, Thomas; Lopez-Laso, Eduardo; Cortes-Saladelafont, Elisenda; Pearson, Toni S.; Sivri, H. Serap; Yildiz, Yilmaz; Assmann, Birgit; Kurian, Manju A.; Leuzzi, Vincenzo; Heales, Simon; Pope, Simon; Porta, Francesco; Garcia-Cazorla, Angeles; Honzik, Tomas; Pons, Roser; Regal, Luc; Goez, Helly; Artuch, Rafael; Hoffmann, Georg F.; Horvath, Gabriella; Thoeny, Beat; Scholl-Buergi, Sabine; Burlina, Alberto; Verbeek, Marcel M.; Mastrangelo, Mario; Friedman, Jennifer; Wassenberg, Tessa; Jeltsch, Kathrin; Kulhanek, Jan; Kuseyri Huebschmann, Oya 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
