Showing results (441-450 of 1,270) with videos related to
Sort By:
Pageof 127
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.JIMD Reports|November 22, 2017
Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase AlfaKenneth I Berger, Barbara K Burton, Gregory D Lewis, et al.JIMD Reports|November 22, 2017
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial DisordersShanti Balasubramaniam, Lisa G Riley, Anand Vasudevan, et al.JIMD Reports|November 22, 2017
Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous MutationP Phowthongkum, C Ittiwut, V ShotelersukJIMD Reports|September 10, 2017
Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old FemaleFarrah Rajabi, Lance H Rodan, Maureen M Jonas, et al.JIMD Reports|September 10, 2017
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene MutationWienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, et al.JIMD Reports|February 26, 2018
Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional StudyJana Matic, Nina A Zeltner, Johannes HäberleJIMD Reports|February 26, 2018
Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative VariantSandra Pereira, Mariana Adrião, Mafalda Sampaio, et al.JIMD Reports|February 16, 2018
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and ReviewNouf Althonaian, Abdulrahman Alsultan, Eva Morava, et al.Pageof 127