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JIMD reports

Showing results (101-110 of 1,270) with videos related to

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JIMD Reports|July 14, 2021
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of <i>FOLR1</i> gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic dietMaria T Papadopoulou, Efterpi Dalpa, Michalis Portokalas, et al.
JIMD Reports|June 22, 2018
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked AdrenoleukodystrophyMasashi Morita, Shun Matsumoto, Airi Sato, et al.
JIMD Reports|May 1, 2017
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsCorrado Angelini, Daniela Tavian, Sara Missaglia
JIMD Reports|April 15, 2018
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy PeriodTeruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, et al.
JIMD Reports|April 15, 2018
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot StudyAdam J Bittel, Kathryn L Bohnert, Dominic N Reeds, et al.
JIMD Reports|July 8, 2017
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein DeficiencyPeter van Vliet, Annelies E Berden, Mojca K M van Schie, et al.
JIMD Reports|June 21, 2018
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) DeficiencyColleen M Carlston, Sacha Ferdinandusse, Judith A Hobert, et al.
JIMD Reports|June 27, 2019
Genotype and phenotype classification of 29 patients affected by Krabbe diseaseAnna M H Madsen, Flemming Wibrand, Allan M Lund, et al.
JIMD Reports|June 27, 2019
Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretionRhona M Jack, C Ronald Scott
JIMD Reports|June 27, 2019
Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenaseVerena Peters, Marina Morath, Matthias Mack, et al.
Pageof 127

Showing results (101-110 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|July 14, 2021
Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of <i>FOLR1</i> gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic dietMaria T Papadopoulou, Efterpi Dalpa, Michalis Portokalas, et al.
JIMD Reports|June 22, 2018
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked AdrenoleukodystrophyMasashi Morita, Shun Matsumoto, Airi Sato, et al.
JIMD Reports|May 1, 2017
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsCorrado Angelini, Daniela Tavian, Sara Missaglia
JIMD Reports|April 15, 2018
Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy PeriodTeruo Miyazaki, Hironori Nagasaka, Haruki Komatsu, et al.
JIMD Reports|April 15, 2018
Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot StudyAdam J Bittel, Kathryn L Bohnert, Dominic N Reeds, et al.
JIMD Reports|July 8, 2017
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein DeficiencyPeter van Vliet, Annelies E Berden, Mojca K M van Schie, et al.
JIMD Reports|June 21, 2018
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) DeficiencyColleen M Carlston, Sacha Ferdinandusse, Judith A Hobert, et al.
JIMD Reports|June 27, 2019
Genotype and phenotype classification of 29 patients affected by Krabbe diseaseAnna M H Madsen, Flemming Wibrand, Allan M Lund, et al.
JIMD Reports|June 27, 2019
Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretionRhona M Jack, C Ronald Scott
JIMD Reports|June 27, 2019
Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenaseVerena Peters, Marina Morath, Matthias Mack, et al.
Pageof 127