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JIMD Reports|October 11, 2015
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyEugene Diekman, Monique de Sain-van der Velden, Hans Waterham, et al.JIMD Reports|October 11, 2015
Further Delineation of the ALG9-CDG PhenotypeSarah AlSubhi, Amal AlHashem, Anas AlAzami, et al.JIMD Reports|July 21, 2017
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two IndividualsMonica H Wojcik, Klaas J Wierenga, Lance H Rodan, et al.JIMD Reports|July 21, 2017
Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?A Broomfield, J Fletcher, P Hensman, et al.JIMD Reports|June 27, 2016
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IVHaiqing Yi, Quan Zhang, Chunyu Yang, et al.JIMD Reports|June 27, 2016
The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?Uri Zilberman, Haim BibiJIMD Reports|November 27, 2015
Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein IntoleranceC Nicolas, N Bednarek, V Vuiblet, et al.JIMD Reports|October 3, 2015
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, et al.JIMD Reports|November 17, 2017
Three Cases of Hereditary Tyrosinaemia Type 1: Neuropsychiatric Outcomes and Brain Imaging Following Treatment with NTBCHelen Walker, Mervi Pitkanen, Yusof Rahman, et al.JIMD Reports|November 18, 2017
Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of TreatmentA S Davison, B Norman, A M Milan, et al.Pageof 127