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JIMD Reports|October 24, 2018
Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase DeficiencyChristina Peroutka, Jacqueline Salas, Jacquelyn Britton, et al.JIMD Reports|February 22, 2017
Altered Cellular Homeostasis in Murine MPS I Fibroblasts: Evidence of Cell-Specific PhysiopathologyGustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, et al.JIMD Reports|February 22, 2017
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United KingdomDanja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, et al.JIMD Reports|March 22, 2017
The Impact of Fabry Disease on Reproductive FitnessDawn A Laney, Virginia Clarke, Allison Foley, et al.JIMD Reports|March 10, 2017
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?M Fleger, J Willomitzer, R Meinsma, et al.JIMD Reports|March 12, 2017
Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase DeficiencyDeeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, et al.JIMD Reports|January 21, 2017
The Spectrum of Niemann-Pick Type C Disease in GreeceIrene Mavridou, Evangelia Dimitriou, Marie T Vanier, et al.JIMD Reports|March 16, 2017
Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with PhenylketonuriaCharlotte Veyrat-Durebex, Christelle Debeissat, Hélène Blasco, et al.JIMD Reports|January 29, 2017
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa RicaTanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, et al.JIMD Reports|January 17, 2017
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTSMette Borch Nørmark, Nanna Kjaer, Allan Meldgaard LundPageof 127