Your search returned 24 results.

Results
	1.	When to Suspect and How to Diagnose Mitochondrial Disorders? [electronic resource] by Korenev, Sergei Morris, Andrew A M Producer: 20180409 In: Indian journal of pediatrics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Diagnosis and early management of inborn errors of metabolism presenting around the time of birth. [electronic resource] by Leonard, James V Morris, Andrew A M Producer: 20060530 In: Acta paediatrica (Oslo, Norway : 1992) vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Recognition, assessment and management of hypoglycaemia in childhood. [electronic resource] by Ghosh, Arunabha Banerjee, Indraneel Morris, Andrew A M Producer: 20170522 In: Archives of disease in childhood vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Leigh disease associated with a novel mitochondrial DNA ND5 mutation. [electronic resource] by Taylor, Robert W Morris, Andrew A M Hutchinson, Michael Turnbull, Douglass M Producer: 20020822 In: European journal of human genetics : EJHG vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Peritoneal dialysis for chronic renal failure in a patient with methylmalonic acidaemia. [electronic resource] by Etuwewe, Bemigho Jones, Caroline A Mathur, Shipra Wright, Katherine P Morris, Andrew A M Producer: 20090716 In: Pediatric nephrology (Berlin, Germany) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A. [electronic resource] by Ghosh, Arunabha Urquhart, Jill Daly, Sarah Ferguson, Anne Scotcher, Diana Morris, Andrew A M Clayton-Smith, Jill Producer: 20170714 In: Journal of child neurology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. [electronic resource] by McFarland, Robert Clark, Kim M Morris, Andrew A M Taylor, Robert W Macphail, Sheila Lightowlers, Robert N Turnbull, Douglass M Producer: 20020306 In: Nature genetics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. [electronic resource] by den Boer, Margarethe E J Wanders, Ronald J A Morris, Andrew A M IJlst, Lodewijk Heymans, Hugo S A Wijburg, Frits A Producer: 20020222 In: Pediatrics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. [electronic resource] by Maniura-Weber, Katharina Taylor, Robert W Johnson, Margaret A Chrzanowska-Lightowlers, Zofia Morris, Andrew A M Charlton, Charles P J Turnbull, Douglass M Bindoff, Laurence A Producer: 20041207 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. [electronic resource] by 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 Producer: 20090410 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. [electronic resource] by 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 Producer: 20170515 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. [electronic resource] by 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 Publication details: American journal of human genetics 07 2016 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. [electronic resource] by Glasgow, Ruth I C Thompson, Kyle Barbosa, Inês A He, Langping Alston, Charlotte L Deshpande, Charu Simpson, Michael A Morris, Andrew A M Neu, Axel Löbel, Ulrike Hall, Julie Prokisch, Holger Haack, Tobias B Hempel, Maja McFarland, Robert Taylor, Robert W Producer: 20180802 In: Neurogenetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. [electronic resource] by 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 Producer: 20070906 In: Brain : a journal of neurology vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. [electronic resource] by 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 Producer: 20190604 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. [electronic resource] by 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 Producer: 20150716 In: Molecular genetics and metabolism vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	SURF1 deficiency: a multi-centre natural history study. [electronic resource] by 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 Producer: 20150330 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. [electronic resource] by Alston, Charlotte L Howard, Caoimhe Oláhová, Monika Hardy, Steven A He, Langping Murray, Philip G O'Sullivan, Siobhan Doherty, Gary Shield, Julian P H Hargreaves, Iain P Monavari, Ardeshir A Knerr, Ina McCarthy, Peter Morris, Andrew A M Thorburn, David R Prokisch, Holger Clayton, Peter E McFarland, Robert Hughes, Joanne Crushell, Ellen Taylor, Robert W Producer: 20171031 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. [electronic resource] by 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 Producer: 20200727 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. [electronic resource] by 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 Schweitzer-Krantz, Susanne Scheweitzer-Krantz, Susanne Silao, Catherine Lynn T Vela-Amieva, Marcela Waisbren, Susan Fridovich-Keil, Judith L Producer: 20130405 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 24 results.