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JIMD Reports|March 17, 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduriaEster Perales-Clemente, Angela L Hewitt, April L Studinski, et al.JIMD Reports|March 17, 2021
Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type IIISarah P Young, Aleena Khan, Ela Stefanescu, et al.JIMD Reports|March 17, 2021
Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (Mut-ko/ki) of methylmalonic aciduriaMarie Lucienne, Déborah Mathis, Nathan Perkins, et al.JIMD Reports|March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohortStefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.JIMD Reports|January 14, 2022
Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational seriesWilliam Goodison, Fred Baron, Coralie Seary, et al.JIMD Reports|January 14, 2022
Acute and early developmental outcomes of children with Duarte galactosemiaJudith L Fridovich-Keil, Grace Carlock, Sneh Patel, et al.JIMD Reports|March 14, 2022
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiencyNandaki Keshavan, Michelle Wood, Lucy M Alderson, et al.JIMD Reports|April 18, 2022
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiencyKristin Ørstavik, Kjell Arne Arntzen, Per Mathisen, et al.JIMD Reports|April 18, 2022
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutationsShirin Moarefian, Mahdi Zamani, Ali Rahmanifar, et al.JIMD Reports|June 27, 2019
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patientsJan Smeitink, Saskia Koene, Julien Beyrath, et al.Pageof 127