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Neuropediatrics
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September 13, 2006
Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system
S 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 phenotype
M 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 children
C 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 I
E 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 programme
H 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 pitfalls
M Adamowicz, R Płoski, D Rokicki, et al.
Neuropediatrics
|
June 10, 2005
Mitochondrial dysfunction in a patient with Joubert syndrome
E 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 dysfunction
L 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 note
M C de Vries, R J Rodenburg, E Morava, et al.
Molecular Genetics and Metabolism
|
October 11, 2025
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction
J Ganesh, C Donnelly, A Ligezka, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 96) with videos related to
Sort By:
Page
of 10
Neuropediatrics
|
September 13, 2006
Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system
S 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 phenotype
M 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 children
C 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 I
E 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 programme
H 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 pitfalls
M Adamowicz, R Płoski, D Rokicki, et al.
Neuropediatrics
|
June 10, 2005
Mitochondrial dysfunction in a patient with Joubert syndrome
E 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 dysfunction
L 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 note
M C de Vries, R J Rodenburg, E Morava, et al.
Molecular Genetics and Metabolism
|
October 11, 2025
Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction
J Ganesh, C Donnelly, A Ligezka, et al.
Page
of 10