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JIMD Reports|April 18, 2022
High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyriaCindy Towns, Sobana Balakrishnan, Chris Florkowski, et al.JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren S Akesson, Rocio Rius, Natasha J Brown, et al.JIMD Reports|April 18, 2022
Long-term low dose nitisinone therapy in adults with alkaptonuria shows no cognitive decline or increased severity of depressionAndrew S Davison, Gin Hughes, Joanne A Harrold, et al.JIMD Reports|April 18, 2022
Reversible sensory neuropathy in mitochondrial trifunctional protein deficiencySarah Catharina Grünert, Matthias Eckenweiler, Ute SpiekerkoetterJIMD Reports|September 14, 2018
I-Cell Disease (Mucolipidosis II): A Case Series from a Tertiary Paediatric Centre Reviewing the Airway and Respiratory Consequences of the DiseaseRachel Edmiston, Stuart Wilkinson, Simon Jones, et al.JIMD Reports|August 18, 2018
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New PatientsBobby G Ng, Hunter R Underhill, Lars Palm, et al.JIMD Reports|March 6, 2023
The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screeningIsaac Bernhardt, Emma Glamuzina, Bryony Ryder, et al.JIMD Reports|March 6, 2023
Relationship between <i>MAN2B1</i> genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosisLine Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, et al.JIMD Reports|March 6, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of <i>ST3GAL5</i> cause GM3 synthase deficiencyNatasha Rudy, Kazuhiro Aoki, Amitha Ananth, et al.Pageof 125