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JIMD Reports|February 23, 2013
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn ScreeningU Spiekerkoetter, M Mueller, M Sturm, et al.JIMD Reports|March 12, 2013
Fatal and unanticipated cardiorespiratory disease in a two-year-old child with hurler syndrome following successful stem cell transplantSampada Gupta, Anne O'Meara, Robert Wynn, et al.JIMD Reports|March 13, 2013
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizuresDina Belachew, Traci Kazmerski, Ingrid Libman, et al.JIMD Reports|September 27, 2014
Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe DiseaseYohta Shimada, Erica Nishimura, Hiroo Hoshina, et al.JIMD Reports|September 27, 2014
A Cause of Permanent Ketosis: GLUT-1 DeficiencyAlexis Chenouard, Sandrine Vuillaumier-Barrot, Nathalie Seta, et al.JIMD Reports|September 27, 2014
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH MutationM J Fraidakis, C Liadinioti, L Stefanis, et al.JIMD Reports|June 5, 2013
Socio-emotional Problems in Children with CDGK F E van de Loo, L van Dongen, M Mohamed, et al.JIMD Reports|November 6, 2013
Newborn Screening for Glutaric Aciduria-II: The New England ExperienceI Sahai, C L Garganta, J Bailey, et al.JIMD Reports|November 6, 2013
Systematic Data Collection to Inform Policy Decisions: Integration of the Region 4 Stork (R4S) Collaborative Newborn Screening Database to Improve MS/MS Newborn Screening in Washington StateAshleigh Fleischman, John D Thompson, Mike GlassJIMD Reports|November 6, 2013
Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndromeKathleen A Delaney, Kyle R Rudser, Brianna D Yund, et al.Pageof 125