Showing results (51-60 of 86) with videos related to
Sort By:
Pageof 9
Acta Paediatrica (Oslo, Norway : 1992)|December 6, 2008
Decreased bone density and treatment in patients with autosomal recessive cutis laxaC Noordam, S Funke, N V Knoers, et al.Molecular Therapy. Methods & Clinical Development|August 14, 2025
Are viral vector-mediated therapies compatible with aberrant glycosylation?I J J Muffels, R Budhraja, S Radenkovic, et al.Acta Paediatrica (Oslo, Norway : 1992)|April 5, 2007
Early cardiac involvement in children carrying the A3243G mtDNA mutationS B Wortmann, R J Rodenburg, A P Backx, et al.Journal of Inherited Metabolic Disease|November 10, 2009
Substrate deprivation therapy in juvenile Sandhoff diseaseS B Wortmann, D J Lefeber, G Dekomien, et al.Molecular Genetics and Metabolism|November 21, 2018
The challenge of CDG diagnosisR Francisco, D Marques-da-Silva, S Brasil, et al.European Journal of Ophthalmology|February 24, 2006
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndromeE Morava, M A Willemsen, S Wopereis, et al.Journal of Inherited Metabolic Disease|September 10, 2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiencyE Morava, S B Wortmann, H Zweers van Essen, et al.Neuromuscular Disorders : NMD|January 5, 2000
Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophiesA Herczegfalvi, G Tóth, P Gyürüs, et al.Neurology|November 30, 2006
Mitochondrial disease criteria: diagnostic applications in childrenE Morava, L van den Heuvel, F Hol, et al.European Journal of Public Health|March 30, 2001
Do health behaviour and psychosocial risk factors explain the European east-west gap in health status?M Laaksonen, A L McAlister, T Laatikainen, et al.Pageof 9