Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies von 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.

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Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation von Turnbull, Douglass M, McFarland, Robert, Clark, Kim M, Morris, Andrew A.M, Taylor, Robert W, Macphail, Sheila, Lightowlers, Robert N

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Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency von Morris, Andrew A.M., Cuenoud, Bernard, Delerive, Philippe, Mundy, Helen, Schwahn, Bernd C.

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Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations von 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.

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies von 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.

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Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations von Puente-Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A.M., Jones, Simon A., Stepien, Karolina M.

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Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study von Seker Yilmaz, Berna, Baruteau, Julien, Chakrapani, Anupam, Champion, Michael, Chronopoulou, Efstathia, Claridge, Lee C., Daly, Anne, Davies, Catherine, Davison, James, Dhawan, Anil, Grunewald, Stephanie, Gupte, Girish L., Heaton, Nigel, Lemonde, Hugh, McKiernan, Pat, Mills, Philippa, Morris, Andrew A.M., Mundy, Helen, Pierre, Germaine, Rajwal, Sanjay, Sivananthan, Siyamini, Sreekantam, Srividya, Stepien, Karolina M., Vara, Roshni, Yeo, Mildrid, Gissen, Paul

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Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion von 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

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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies von 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

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Nutrition in metabolic disease von Jameson, Elisabeth, Morris, Andrew A.M

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Mitochondrial disease – a review von Jameson, Elisabeth, Morris, Andrew A.M

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Recognition, assessment and management of hypoglycaemia in childhood von Ghosh, Arunabha, Banerjee, Indraneel, Morris, Andrew A M

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency von 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.

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Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia von Etuwewe, Bemigho, Jones, Caroline A., Mathur, Shipra, Wright, Katherine P., Morris, Andrew A. M.

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Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study von 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

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency von 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.

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population von 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

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SURF1 deficiency: a multi-centre natural history study von Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima

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Cerebral ketone body metabolism von Morris, A. A. M.

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Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy von 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

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