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Georg F Hoffmann

Showing results (331-340 of 381) with videos related to

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Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Annals of Clinical and Translational Neurology|January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disordersUlrike Mütze, Alina Ottenberger, Florian Gleich, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Inherited Metabolic Disease|December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre studyE M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.
Orphanet Journal of Rare Diseases|April 25, 2023
Transition for adolescents with a rare disease: results of a nationwide German projectCorinna Grasemann, Jakob Höppner, Peter Burgard, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
EMBO Molecular Medicine|January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survivalKatharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.
Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In VivoTian Sun, Nicole Hammann, Lina Leghlam, et al.
Pageof 39

Showing results (331-340 of 381) with videos related to

Sort By:
Pageof 39
Journal of Inherited Metabolic Disease|August 21, 2023
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samplesEsther M Maier, Ulrike Mütze, Nils Janzen, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Annals of Clinical and Translational Neurology|January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disordersUlrike Mütze, Alina Ottenberger, Florian Gleich, et al.
Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.
Journal of Inherited Metabolic Disease|December 4, 2020
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre studyE M Charlotte Märtner, Esther M Maier, Katharina Mengler, et al.
Orphanet Journal of Rare Diseases|April 25, 2023
Transition for adolescents with a rare disease: results of a nationwide German projectCorinna Grasemann, Jakob Höppner, Peter Burgard, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
EMBO Molecular Medicine|January 16, 2010
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survivalKatharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, et al.
Annals of Neurology|April 24, 2012
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsyJennifer Friedman, Emmanuel Roze, Jose E Abdenur, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In VivoTian Sun, Nicole Hammann, Lina Leghlam, et al.
Pageof 39