Showing results (771-780 of 1,263) with videos related to
Sort By:
Pageof 127
JIMD Reports|December 20, 2015
Development of Metabolic Phenotype in Phenylketonuria: Evaluation of the Blaskovics Protein Loading Test at 5 Years of AgeP Burgard, E Mönch, J Zschocke, et al.JIMD Reports|November 22, 2015
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)Fatma A Al-Jasmi, Aisha Al-Shamsi, Jozef L Hertecant, et al.JIMD Reports|November 30, 2015
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency SyndromeEmanuele Barca, Maoxue Tang, Giulio Kleiner, et al.JIMD Reports|August 5, 2015
TMEM165 Deficiency: Postnatal Changes in GlycosylationS Schulte Althoff, M Grüneberg, J Reunert, et al.JIMD Reports|October 9, 2015
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6Emma S Reid, Hywel Williams, Polona Le Quesne Stabej, et al.JIMD Reports|October 27, 2015
Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry CardiomyopathyJohannes Krämer, Peter Nordbeck, Stefan Störk, et al.JIMD Reports|October 24, 2015
Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a SubstrateYoo Choi, Alexander B Tuzikov, Tatyana V Ovchinnikova, et al.JIMD Reports|February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle VariantsJuliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.JIMD Reports|March 9, 2016
Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VIZeynep Tamay, Gulden Gokcay, Fatih Dilek, et al.JIMD Reports|September 26, 2015
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited DisordersPaula Fernandez-Guerra, M Lund, T J Corydon, et al.Pageof 127