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Journal of Inherited Metabolic Disease|September 16, 2003
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency?A M Lund, M A Dixon, P Vreken, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyA M Lund, M A Dixon, P Vreken, et al.
JIMD Reports|July 18, 2025
Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young BoyT B Sloth, M C Ørngreen, J Ek, et al.
Neurology|November 25, 2010
Brain N-acetylaspartate levels correlate with motor function in metachromatic leukodystrophyC i Dali, L G Hanson, N W Barton, et al.
Journal of Inherited Metabolic Disease|May 29, 2015
Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosisL Borgwardt, A M Thuesen, K J Olsen, et al.
Nature Genetics|September 1, 1993
Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermiaK A Quane, J M Healy, K E Keating, et al.
Molecular Genetics and Metabolism|February 23, 2019
Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working groupN Guffon, A Tylki-Szymanska, L Borgwardt, et al.
Anesthesiology|April 1, 1994
A clinical grading scale to predict malignant hyperthermia susceptibilityM G Larach, A R Localio, G C Allen, et al.
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