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JIMD reports

Showing results (271-280 of 1,270) with videos related to

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JIMD Reports|January 24, 2015
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantationHannah Y Coletti, Mieke Aldenhoven, Karina Yelin, et al.
JIMD Reports|October 13, 2018
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old BoyB Ryder, M Tolomeo, Z Nochi, et al.
JIMD Reports|October 13, 2018
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IVTavleen Sandhu, Michelle Polan, Zhongxin Yu, et al.
JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.
JIMD Reports|July 21, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical ProfileRomain Penicaud, Jean-Baptiste Ferron, Xavier Valette, et al.
JIMD Reports|July 14, 2025
A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain FeaturesPreeya Rehsi, Ata Siddiqui, Rahul Singh, et al.
JIMD Reports|July 14, 2025
A Pilot Study of Bone Marrow Transplantation in a GALT-Null Rat Model of Classic GalactosemiaShauna A Rasmussen, Madelyn M Seemiller, Ingrid Smith, et al.
JIMD Reports|July 14, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome HaplogroupsSurita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, et al.
JIMD Reports|March 6, 2024
Clinical, biochemical and molecular characterization of a new case with <i>FDX2</i>-related mitochondrial disorder: Potential biomarkers and treatment optionsParith Wongkittichote, Cassandra Pantano, Miao He, et al.
JIMD Reports|March 6, 2024
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppressionAlberto B Burlina, Alessandro P Burlina, Renzo Mignani, et al.
Pageof 127

Showing results (271-280 of 1,270) with videos related to

Sort By:
Pageof 127
JIMD Reports|January 24, 2015
Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantationHannah Y Coletti, Mieke Aldenhoven, Karina Yelin, et al.
JIMD Reports|October 13, 2018
A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old BoyB Ryder, M Tolomeo, Z Nochi, et al.
JIMD Reports|October 13, 2018
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IVTavleen Sandhu, Michelle Polan, Zhongxin Yu, et al.
JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.
JIMD Reports|July 21, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical ProfileRomain Penicaud, Jean-Baptiste Ferron, Xavier Valette, et al.
JIMD Reports|July 14, 2025
A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain FeaturesPreeya Rehsi, Ata Siddiqui, Rahul Singh, et al.
JIMD Reports|July 14, 2025
A Pilot Study of Bone Marrow Transplantation in a GALT-Null Rat Model of Classic GalactosemiaShauna A Rasmussen, Madelyn M Seemiller, Ingrid Smith, et al.
JIMD Reports|July 14, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome HaplogroupsSurita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, et al.
JIMD Reports|March 6, 2024
Clinical, biochemical and molecular characterization of a new case with <i>FDX2</i>-related mitochondrial disorder: Potential biomarkers and treatment optionsParith Wongkittichote, Cassandra Pantano, Miao He, et al.
JIMD Reports|March 6, 2024
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppressionAlberto B Burlina, Alessandro P Burlina, Renzo Mignani, et al.
Pageof 127