Showing results (431-440 of 480) with videos related to
Sort By:
Pageof 48
Neuromuscular Disorders : NMD|April 15, 2008
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathyC M Westermann, L Dorland, D M Votion, et al.Molecular Genetics and Metabolism|July 27, 2010
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum)J H van der Kolk, I D Wijnberg, C M Westermann, et al.Human Molecular Genetics|May 22, 2014
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemiaSander M Houten, Simone Denis, Heleen Te Brinke, et al.Human Molecular Genetics|July 30, 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoformTuva Barøy, Janet Koster, Petter Strømme, et al.Brain : a Journal of Neurology|February 1, 2014
X-linked adrenoleukodystrophy in women: a cross-sectional cohort studyMarc Engelen, Mathieu Barbier, Inge M E Dijkstra, et al.JIMD Reports|July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJan Václavík, Lucie Mádrová, Štěpán Kouřil, et al.Journal of Medical Genetics|July 22, 2010
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 geneMerel S Ebberink, Barbara Csanyi, Wui K Chong, et al.Journal of Inherited Metabolic Disease|January 12, 2008
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiencyT G J Derks, T S Boer, A van Assen, et al.Journal of Inherited Metabolic Disease|January 25, 2018
The role of the clinician in the multi-omics era: are you ready?Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.Brain : a Journal of Neurology|October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old geneMike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.Pageof 48