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JIMD reports

Showing results (901-910 of 1,250) with videos related to

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JIMD Reports|June 22, 2026
Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle DisordersYasuaki Yasuda, Yoko Nakajima, Yuta Sudo, et al.
JIMD Reports|July 6, 2026
Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe ThrombocytopeniaEamon P McCarron, Melanie Hill, Adam Lomas, et al.
JIMD Reports|June 29, 2026
Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature ReviewShaymaa Shurrab, Amira Mobarak, Gabriella Horvath, et al.
JIMD Reports|June 29, 2026
Cardiac Manifestation in Wilson Disease: Results of a 9-Year Prospective CohortS Quick, M Cybularz-Bednarek, L Wiegand, et al.
JIMD Reports|September 9, 2020
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria CentreLakshminarayan R Ranganath, Anna M Milan, Andrew T Hughes, et al.
JIMD Reports|July 25, 2016
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with PhenylketonuriaAnna Hood, Jerrel Rutlin, Joshua S Shimony, et al.
JIMD Reports|May 14, 2015
Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase ActivityGeorge G Schweitzer, Sara L Collier, Zhouji Chen, et al.
JIMD Reports|May 6, 2015
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel PhenotypesTuomas Komulainen, Milla-Riikka Hautakangas, Reetta Hinttala, et al.
JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.
JIMD Reports|July 21, 2020
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiencyLorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, et al.
Pageof 125

Showing results (901-910 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|June 22, 2026
Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle DisordersYasuaki Yasuda, Yoko Nakajima, Yuta Sudo, et al.
JIMD Reports|July 6, 2026
Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe ThrombocytopeniaEamon P McCarron, Melanie Hill, Adam Lomas, et al.
JIMD Reports|June 29, 2026
Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature ReviewShaymaa Shurrab, Amira Mobarak, Gabriella Horvath, et al.
JIMD Reports|June 29, 2026
Cardiac Manifestation in Wilson Disease: Results of a 9-Year Prospective CohortS Quick, M Cybularz-Bednarek, L Wiegand, et al.
JIMD Reports|September 9, 2020
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria CentreLakshminarayan R Ranganath, Anna M Milan, Andrew T Hughes, et al.
JIMD Reports|July 25, 2016
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with PhenylketonuriaAnna Hood, Jerrel Rutlin, Joshua S Shimony, et al.
JIMD Reports|May 14, 2015
Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase ActivityGeorge G Schweitzer, Sara L Collier, Zhouji Chen, et al.
JIMD Reports|May 6, 2015
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel PhenotypesTuomas Komulainen, Milla-Riikka Hautakangas, Reetta Hinttala, et al.
JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.
JIMD Reports|July 21, 2020
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiencyLorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, et al.
Pageof 125