Showing results (61-70 of 86) with videos related to
Sort By:
Pageof 9
Journal of Inherited Metabolic Disease|May 27, 2008
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic stepsE Morava, H Wosik, J Kárteszi, et al.Neuropediatrics|September 13, 2006
Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation systemS Pillen, E Morava, M Van Keimpema, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|October 16, 2012
Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotypeM Horvers, A K Anttonen, A E Lehesjoki, et al.Neuromuscular Disorders : NMD|November 25, 2006
A scale to monitor progression and treatment of mitochondrial disease in childrenC Phoenix, A M Schaefer, J L Elson, et al.The British Journal of Ophthalmology|November 21, 2008
Ophthalmological abnormalities in children with congenital disorders of glycosylation type IE Morava, H N Wosik, J Sykut-Cegielska, et al.European Journal of Public Health|January 5, 2002
East-west differences in reported preventive practices. A comparative study of six European areas of the WHO-CINDI programmeH Pardell, E Roure, W Drygas, et al.Journal of Inherited Metabolic Disease|April 26, 2007
Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfallsM Adamowicz, R Płoski, D Rokicki, et al.Neuropediatrics|June 10, 2005
Mitochondrial dysfunction in a patient with Joubert syndromeE Morava, A Dinopoulos, H Y Kroes, et al.Journal of Inherited Metabolic Disease|May 6, 2010
Successful use of albuterol in a patient with central core disease and mitochondrial dysfunctionL T W Schreuder, M W G Nijhuis-van der Sanden, A de Hair, et al.Journal of Inherited Metabolic Disease|May 27, 2008
Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary noteM C de Vries, R J Rodenburg, E Morava, et al.Pageof 9