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Our mission is to discover the molecular and metabolic basis of inherited disorders, particularly those affecting the brain and/or liver, and thereby to find new treatments for these disorders. Of our 30,000 genes, 4,000 code for enzymes and transporters. Enzymes convert one chemical ("metabolite") to another and transporters move chemicals between cells and organelles. When an enzyme or transporter doesn't work properly we call this an "inborn error of metabolism". Inborn errors can present in many different ways. Those affecting the brain can cause epileptic fits, movement disorders (like Parkinson's disease or ataxia), paralysis and psychiatric symptoms such as autism. Those affecting the liver can produce liver failure or cirrhosis. Identification of a "new" inborn error as the cause of neurological disease or liver disease has traditionally relied on the development of new, more sensitive, more specific and more accurate techniques for the analysis of metabolites or enzymes.
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论文共 227 篇作者统计合作学者相似作者
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Nazgol Motamed-Gorji,Youssef Khalil,Cristina Gonzalez-Robles, Shamsher Khan,Philippa Mills,Hector Garcia-Moreno,Heather Ging, Ambreen Tariq,Peter T. Clayton,Paola Giunti
Antioxidantsno. 5 (2024)
Endocrine Abstracts (2024)
International journal of molecular sciencesno. 12 (2023): 10177-10177
Robert S. Kiss, Jarred Chicoine,Youssef Khalil,Robert Sladek, He Chen,Alessandro Pisaturo,Cyril Martin,Jessica D. Dale,Tegan A. Brudenell,Archith Kamath, Jeffrey Kyei-Boahen,Anouar Hafiane,
Oxford Medicine Onlinepp.637-645, (2022)
Youssef Khalil, Sara Carrino,Fujun Lin,Anna Ferlin,Heena V Lad,Francesca Mazzacuva,Sara Falcone, Natalie Rivers,Gareth Banks, Danilo Concas,Carlos Aguilar,Andrew R Haynes,
Inborn Metabolic Diseasespp.693-703, (2022)
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