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Journal of Inherited Metabolic Disease|February 12, 2019
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patientsMonique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.Journal of Inherited Metabolic Disease|March 1, 2019
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemiaAnouk Kuiper, Stephanie Grünewald, Elaine Murphy, et al.Journal for Immunotherapy of Cancer|February 28, 2025
T-cell immune checkpoint inhibition plus hypomethylation for locally advanced HER2-negative breast cancer: a phase 2 neoadjuvant window trial of decitabine and pembrolizumab followed by standard neoadjuvant chemotherapyHarry D Bear, Xiaoyan Deng, Dipankar Bandyopadhyay, et al.Journal of Inherited Metabolic Disease|February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionPatrick Forny, Friederike Hörster, Diana Ballhausen, et al.Human Mutation|January 20, 2017
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme ActivityMarisa I Mendes, Desirée Ec Smith, Ana Pop, et al.Human Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.Journal of Inherited Metabolic Disease|December 13, 2019
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?Hanneke A Haijes, Femke Molema, Mirjam Langeveld, et al.International Journal of Neonatal Screening|January 23, 2025
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on TreatabilityAbigail Veldman, Birgit Sikkema-Raddatz, Terry G J Derks, et al.Pageof 17