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Georg F Hoffmann

Showing results (291-300 of 381) with videos related to

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Journal of Inherited Metabolic Disease|May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 PatientsNicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Molecular Genetics and Metabolism Reports|June 28, 2018
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screeningNaoaki Shibata, Yuki Hasegawa, Kenji Yamada, et al.
Pediatrics|October 14, 2020
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn ScreeningUlrike Mütze, Sven F Garbade, Gwendolyn Gramer, et al.
Digital Health|August 12, 2024
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learnedMichele Zoch, Christian Gierschner, Anne-Katrin Andreeff, et al.
International Journal of Molecular Sciences|November 27, 2024
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using <sup>1</sup>H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived BiofluidsAfshin Saffari, Moritz Niesert, Claire Cannet, et al.
Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
Molecular Genetics and Metabolism|November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesisThomas Opladen, Martin Lindner, Anibh M Das, et al.
International Journal of Molecular Sciences|July 16, 2020
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in MiceTim Weigand, Florian Colbatzky, Tilman Pfeffer, et al.
Pageof 39

Showing results (291-300 of 381) with videos related to

Sort By:
Pageof 39
Journal of Inherited Metabolic Disease|May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 PatientsNicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B<sub>6</sub> Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.
Neurology. Genetics|October 3, 2022
Efficacy, Tolerability, and Retention of Antiseizure Medications in <i>PRRT2</i>-Associated Infantile EpilepsyJan H Döring, Afshin Saffari, Thomas Bast, et al.
Molecular Genetics and Metabolism Reports|June 28, 2018
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screeningNaoaki Shibata, Yuki Hasegawa, Kenji Yamada, et al.
Pediatrics|October 14, 2020
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn ScreeningUlrike Mütze, Sven F Garbade, Gwendolyn Gramer, et al.
Digital Health|August 12, 2024
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learnedMichele Zoch, Christian Gierschner, Anne-Katrin Andreeff, et al.
International Journal of Molecular Sciences|November 27, 2024
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using <sup>1</sup>H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived BiofluidsAfshin Saffari, Moritz Niesert, Claire Cannet, et al.
Nature Communications|July 1, 2016
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3Lindsey Van Haute, Sabine Dietmann, Laura Kremer, et al.
Molecular Genetics and Metabolism|November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesisThomas Opladen, Martin Lindner, Anibh M Das, et al.
International Journal of Molecular Sciences|July 16, 2020
A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in MiceTim Weigand, Florian Colbatzky, Tilman Pfeffer, et al.
Pageof 39