Quantitative charge-tags for sterol and oxysterol analysis
Crick, Peter J, William Bentley, T, Abdel-Khalik, Jonas, Matthews, Ian, Clayton, Peter T, Morris, Andrew A, Bigger, Brian W, Zerbinati, Chiara, Tritapepe, Luigi, Iuliano, Luigi, Wang, Yuqin, Griffiths, William J
Published in Clinical chemistry (Baltimore, Md.) (01.02.2015)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2015)
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Journal Article
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F
Published in JAMA : the journal of the American Medical Association (02.07.2014)
Published in JAMA : the journal of the American Medical Association (02.07.2014)
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Journal Article
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
Morris, Andrew A. M., Kožich, Viktor, Santra, Saikat, Andria, Generoso, Ben-Omran, Tawfeg I. M., Chakrapani, Anupam B., Crushell, Ellen, Henderson, Mick J., Hochuli, Michel, Huemer, Martina, Janssen, Miriam C. H., Maillot, Francois, Mayne, Philip D., McNulty, Jenny, Morrison, Tara M., Ogier, Helene, O’Sullivan, Siobhan, Pavlíková, Markéta, de Almeida, Isabel Tavares, Terry, Allyson, Yap, Sufin, Blom, Henk J., Chapman, Kimberly A.
Published in Journal of inherited metabolic disease (01.01.2017)
Published in Journal of inherited metabolic disease (01.01.2017)
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Journal Article
Book Review
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Olsen, Rikke K. J., Olpin, Simon E., Andresen, Brage S., Miedzybrodzka, Zofia H., Pourfarzam, Morteza, Merinero, Begoña, Frerman, Frank E., Beresford, Michael W., Dean, John C. S., Cornelius, Nanna, Andersen, Oluf, Oldfors, Anders, Holme, Elisabeth, Gregersen, Niels, Turnbull, Douglass M., Morris, Andrew A. M.
Published in Brain (London, England : 1878) (01.08.2007)
Published in Brain (London, England : 1878) (01.08.2007)
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Journal Article
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
van Vliet, Kimber, van Ginkel, Willem G, Jahja, Rianne, Daly, Anne, MacDonald, Anita, De Laet, Corinne, Vara, Roshni, Rahman, Yusof, Cassiman, David, Eyskens, Francois, Timmer, Corrie, Mumford, Nicky, Bierau, Jörgen, van Hasselt, Peter M, Gissen, Paul, Goyens, Philippe J, McKiernan, Patrick J, Wilcox, Gisela, Morris, Andrew A M, Jameson, Elisabeth A, Huijbregts, Stephan C J, van Spronsen, Francjan J
Published in Orphanet journal of rare diseases (04.12.2019)
Published in Orphanet journal of rare diseases (04.12.2019)
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Journal Article
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.
Published in Journal of inherited metabolic disease (01.05.2017)
Published in Journal of inherited metabolic disease (01.05.2017)
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Journal Article
Analytical strategies for characterization of oxysterol lipidomes: Liver X receptor ligands in plasma
Griffiths, William J., Crick, Peter J., Wang, Yuchen, Ogundare, Michael, Tuschl, Karin, Morris, Andrew A., Bigger, Brian W., Clayton, Peter T., Wang, Yuqin
Published in Free radical biology & medicine (01.06.2013)
Published in Free radical biology & medicine (01.06.2013)
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Journal Article
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
Jumbo-Lucioni, Patricia P., Garber, Kathryn, Kiel, John, Baric, Ivo, Berry, Gerard T., Bosch, Annet, Burlina, Alberto, Chiesa, Ana, Pico, Maria Luz Couce, Estrada, Sylvia C., Henderson, Howard, Leslie, Nancy, Longo, Nicola, Morris, Andrew A. M., Ramirez-Farias, Carlett, Scheweitzer-Krantz, Susanne, Silao, Catherine Lynn T., Vela-Amieva, Marcela, Waisbren, Susan, Fridovich-Keil, Judith L.
Published in Journal of inherited metabolic disease (01.11.2012)
Published in Journal of inherited metabolic disease (01.11.2012)
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Journal Article
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy
Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W
Published in Human molecular genetics (15.01.2019)
Published in Human molecular genetics (15.01.2019)
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Journal Article
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations
Banka, Siddharth, de Goede, Christian, Yue, Wyatt W., Morris, Andrew A.M., von Bremen, Beate, Chandler, Kate E., Feichtinger, René G., Hart, Claire, Khan, Nasaim, Lunzer, Verena, Mataković, Lavinija, Marquardt, Thorsten, Makowski, Christine, Prokisch, Holger, Debus, Otfried, Nosaka, Kazuto, Sonwalkar, Hemant, Zimmermann, Franz A., Sperl, Wolfgang, Mayr, Johannes A.
Published in Molecular genetics and metabolism (01.12.2014)
Published in Molecular genetics and metabolism (01.12.2014)
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Journal Article
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients
den Boer, Margarethe E J, Wanders, Ronald J A, Morris, Andrew A M, IJlst, Lodewijk, Heymans, Hugo S A, Wijburg, Frits A
Published in Pediatrics (Evanston) (01.01.2002)
Published in Pediatrics (Evanston) (01.01.2002)
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Journal Article
Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Journal Article
Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care
Ramaswami, Uma, Humphries, Steve E., Priestley-Barnham, Lorraine, Green, Peter, Wald, David S., Capps, Nigel, Anderson, Mark, Dale, Peter, Morris, Andrew A.
Published in Atherosclerosis (01.11.2019)
Published in Atherosclerosis (01.11.2019)
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Journal Article
Recognition, assessment and management of hypoglycaemia in childhood
Ghosh, Arunabha, Banerjee, Indraneel, Morris, Andrew A M
Published in Archives of disease in childhood (01.06.2016)
Published in Archives of disease in childhood (01.06.2016)
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Journal Article
Book Review
Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion
Taanman, Jan-Willem, Rahman, Shamima, Pagnamenta, Alistair T, Morris, Andrew A.M, Bitner-Glindzicz, Maria, Wolf, Nicole I, Leonard, James V, Clayton, Peter T, Schapira, Anthony H.V
Published in Human mutation (01.02.2009)
Published in Human mutation (01.02.2009)
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Journal Article
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study
Elkhateeb, Nour, Olivieri, Giorgia, Siri, Barbara, Boyd, Stewart, Stepien, Karolina M., Sharma, Reena, Morris, Andrew A. M., Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Bernhardt, Isaac, Sudakhar, Sniya, Chan, Alicia, Mills, Philippa, Ridout, Debora, Gissen, Paul, Dionisi‐Vici, Carlo, Baruteau, Julien
Published in Epilepsia (Copenhagen) (01.06.2023)
Published in Epilepsia (Copenhagen) (01.06.2023)
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Journal Article
LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population
Oláhová, Monika, Hardy, Steven A, Hall, Julie, Yarham, John W, Haack, Tobias B, Wilson, William C, Alston, Charlotte L, He, Langping, Aznauryan, Erik, Brown, Ruth M, Brown, Garry K, Morris, Andrew A M, Mundy, Helen, Broomfield, Alex, Barbosa, Ines A, Simpson, Michael A, Deshpande, Charu, Moeslinger, Dorothea, Koch, Johannes, Stettner, Georg M, Bonnen, Penelope E, Prokisch, Holger, Lightowlers, Robert N, McFarland, Robert, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W
Published in Brain (London, England : 1878) (01.12.2015)
Published in Brain (London, England : 1878) (01.12.2015)
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