Resultados da busca - A.M. Morris
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Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma por William J. Griffiths, Peter J. Crick, Yuchen Wang, Michael Ogundare, Karin Tuschl, Andrew A. M. Morris, Brian Bigger, Peter T. Clayton, Yuqin Wang
Publicado em 2012Artigo -
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Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care por Uma Ramaswami, Steve E. Humphries, L. Priestley-Barnham, Peter Green, David S Wald, Nigel Capps, Mark Anderson, Peter Dale, Andrew A. M. Morris
Publicado em 2019Revisão -
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Cystathionine β‐Synthase Deficiency in the E‐<scp>HOD</scp> Registry—Part <scp>II</scp>: Dietary and Pharmacological Treatment por Andrew A. M. Morris, Jitka Sokolová, Markéta Pavlı́ková, Florian Gleich, Stefan Kölker, Carlo Dionisi‐Vici, Matthias R. Baumgartner, Luciana Hannibal, Henk J. Blom, Martina Huemer, Viktor Kožich
Publicado em 2025Artigo -
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Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients por William J. Griffiths, Jonas Abdel-Khalik, Peter J. Crick, Michael Ogundare, Cedric Shackleton, Karin Tuschl, Anne Mei Kwun Kwok, Brian Bigger, Andrew A. M. Morris, Akira Honda, Libin Xu, Ned A. Porter, Ingemar Björkhem, Peter T. Clayton, Yuqin Wang
Publicado em 2016Artigo -
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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies por Metodi D. Metodiev, Kyle Thompson, Charlotte L. Alston, Andrew A. M. Morris, Langping He, Zarah Assouline, Marlène Rio, Nadia Bahi‐Buisson, Angela Pyle, Helen Griffin, Stefan J. Siira, Aleksandra Filipovska, Arnold Münnich, Patrick F. Chinnery, Robert McFarland, Agnès Rötig, Robert W. Taylor
Publicado em 2016Errata/Corrigenda -
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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families por Helen Tuppen, Vanessa Hogan, Langping He, Emma L. Blakely, Lisa Worgan, Mazhor Aldosary, Gabriele Saretzki, Charlotte L. Alston, Andrew A. M. Morris, Michael A. Clarke, Simon Jones, Anita Devlin, Sahar Mansour, Zofia M. Chrzanowska‐Lightowlers, David R. Thorburn, Robert McFarland, Robert W. Taylor
Publicado em 2010Artigo -
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SURF1 deficiency: a multi-centre natural history study por Yehani Wedatilake, Ruth M. Brown, Robert McFarland, Joy Yaplito‐Lee, Andrew A. M. Morris, Mike Champion, Phillip E. Jardine, Antonia Clarke, David R. Thorburn, Robert W. Taylor, John M. Land, Katharine Forrest, Angus Dobbie, Louise Simmons, Erlend T. Aasheim, David Ketteridge, Donncha Hanrahan, Anupam Chakrapani, Garry K. Brown, Shamima Rahman
Publicado em 2013Artigo -
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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency por Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis, H.R. Scholte, Christine Vianey‐Saban, Ronald Wanders, Lodewijk IJlst, Andrew A.M. Morris, Morteza Pourfarzam, K. Bartlett, E. R. Baumgartner, Johannis B.C. deKlerk, Lisbeth Dahl Schroeder, Thomas J. Corydon, Hans Lund, Vibeke Winter, Peter Bross, Lars Bolund, Niels Gregersen
Publicado em 1999Artigo -
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Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA) por Stavros Stivaros, Shruti Garg, Maria Tziraki, Ying Cai, Owen Thomas, Joseph Mellor, Andrew A. M. Morris, Carly Jim, Karolina Szumanska-Ryt, Laura M. Parkes, Hamied Haroon, Daniela Montaldi, Nicholas J.A. Webb, John Keane, F. Xavier Castellanos, Alcino J. Silva, S M Huson, Stephen K. Williams, D. Gareth Evans, Richard Emsley, Jonathan Green
Publicado em 2018Artigo -
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Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes por Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel, Ivo Barić, Gerard T. Berry, Annet M. Bosch, Alberto Burlina, Ana Chiesa, María L. Couce, Sylvia C. Estrada, Howard Henderson, Nancy Leslie, Nicola Longo, Andrew A. M. Morris, Carlett Ramirez‐Farias, Susanne Scheweitzer‐Krantz, Catherine Lynn T. Silao, Marcela Vela‐Amieva, Susan E. Waisbren, Judith L. Fridovich‐Keil
Publicado em 2012Artigo -
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Guidelines for the diagnosis and management of cystathionine beta‐synthase deficiency por Andrew A. M. Morris, Viktor Kožich, Saikat Santra, Generoso Andria, Tawfeg Ben‐Omran, Anupam Chakrapani, Ellen Crushell, Mick Henderson, Michel Hochuli, Martina Huemer, Miriam C Janssen, F. Maillot, Philip Mayne, Jenny McNulty, Tara M. Morrison, Hélène Ogier, Siobhán O’Sullivan, Markéta Pavlı́ková, Isabel Tavares de Almeida, Allyson Terry, Sufin Yap, Henk J. Blom, Kimberly A. Chapman
Publicado em 2016Revisão -
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Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing por Arunabha Ghosh, Hélene Schlecht, Lesley Heptinstall, John Bassett, Eleanor Cartwright, Sanjeev S. Bhaskar, Jill Urquhart, Alexander Broomfield, Andrew A. M. Morris, Elisabeth Jameson, Bernd Schwahn, John H. Walter, Sofia Douzgou, Helen Murphy, Christian J. Hendriksz, Reena Sharma, Gisela Wilcox, Ellen Crushell, Ardeshir A. Monavari, R. J. Martin, Anne Doolan, Senthil Senniappan, Simon Ramsden, Simon Jones, Siddharth Banka
Publicado em 2017Artigo -
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Expanding the phenotype in argininosuccinic aciduria: need for new therapies por Julien Baruteau, Elisabeth Jameson, Andrew A. M. Morris, Anupam Chakrapani, Saikat Santra, Suresh Vijay, Huriye Kocadag, Clare Beesley, Stephanie Grünewald, Elaine Murphy, Maureen Cleary, Helen Mundy, Lara Abulhoul, Alexander Broomfield, Robin Lachmann, Yusof Rahman, Peter N. Robinson, Lesley MacPherson, Katharine Foster, W.K. Chong, Deborah Ridout, Kirsten McKay Bounford, Simon N. Waddington, Philippa B. Mills, Paul Gissen, James Davison
Publicado em 2017Artigo -
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Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome por Paul Gissen, Colin A. Johnson, Neil V. Morgan, Janneke M. Stapelbroek, Tim Forshew, Wendy N. Cooper, Patrick McKiernan, Leo W. J. Klomp, Andrew A. M. Morris, J. E. Wraith, Patricia McClean, Sally Ann Lynch, Richard J. Thompson, Bernard Lo, Oliver Quarrell, Maja Di Rocco, Richard C. Trembath, Hanna Mandel, Sami Wali, Fiona E. Karet, A. S. Knisely, Roderick H.J. Houwen, Déirdre Kelly, Eamonn R. Maher
Publicado em 2004Artigo -
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies por Robert W. Taylor, Angela Pyle, Helen Griffin, Emma L. Blakely, Jennifer Duff, Langping He, Tania Smertenko, Charlotte L. Alston, Vivienne C. M. Neeve, Andrew Best, John W. Yarham, Janbernd Kirschner, Ulrike Schara, Beril Talim, Haluk Topaloğlu, Ivo Barić, Elke Holinski‐Feder, Angela Abicht, Birgit Czermin, Stephanie Kleinle, Andrew A. M. Morris, Grace Vassallo, Gráinne S. Gorman, Venkateswaran Ramesh, Douglass M. Turnbull, Mauro Santibanez‐Koref, Robert McFarland, Rita Horváth, Patrick F. Chinnery
Publicado em 2014Artigo
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Biology
Medicine
Gene
Genetics
Internal medicine
Biochemistry
Endocrinology
Pediatrics
Mitochondrial DNA
Mutation
Pathology
Chemistry
Mitochondrial disease
Amino acid
Enzyme
Alternative medicine
Bioinformatics
Cholesterol
Computational biology
Cystathionine beta synthase
Genotype
Homocystinuria
Human genetics
Leigh disease
Methionine
Mitochondrion
Psychiatry
Respiratory chain
ATP synthase
Evolutionary biology