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Stephanie Grunewald

Showing results (21-30 of 59) with videos related to

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Metabolites|November 14, 2019
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic AdjustmentJulien Baruteau, Youssef Khalil, Stephanie Grunewald, et al.
Journal of Inherited Metabolic Disease|September 5, 2020
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension studyJerry Vockley, Barbara Burton, Gerard Berry, et al.
The Journal of Clinical Endocrinology and Metabolism|April 12, 2012
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutationWaleed M Bawazir, Evelien F Gevers, Joanna F Flatt, et al.
Proteomics|March 23, 2006
Diagnosis of congenital disorders of glycosylation type-I using protein chip technologyKevin Mills, Philippa Mills, Marie Jackson, et al.
Nature|April 3, 2024
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemiaDwight Koeberl, Andreas Schulze, Neal Sondheimer, et al.
Molecular Genetics and Metabolism Reports|May 3, 2016
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of GlycosylationWendy E Heywood, Emily Bliss, Philippa Mills, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
Journal of Inherited Metabolic Disease|June 5, 2023
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension studyJerry Vockley, Barbara K Burton, Gerard Berry, et al.
Pageof 6

Showing results (21-30 of 59) with videos related to

Sort By:
Pageof 6
Metabolites|November 14, 2019
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic AdjustmentJulien Baruteau, Youssef Khalil, Stephanie Grunewald, et al.
Journal of Inherited Metabolic Disease|September 5, 2020
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension studyJerry Vockley, Barbara Burton, Gerard Berry, et al.
The Journal of Clinical Endocrinology and Metabolism|April 12, 2012
An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutationWaleed M Bawazir, Evelien F Gevers, Joanna F Flatt, et al.
Proteomics|March 23, 2006
Diagnosis of congenital disorders of glycosylation type-I using protein chip technologyKevin Mills, Philippa Mills, Marie Jackson, et al.
Nature|April 3, 2024
Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemiaDwight Koeberl, Andreas Schulze, Neal Sondheimer, et al.
Molecular Genetics and Metabolism Reports|May 3, 2016
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of GlycosylationWendy E Heywood, Emily Bliss, Philippa Mills, et al.
Orphanet Journal of Rare Diseases|February 9, 2017
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypesPolona Le Quesne Stabej, Chela James, Louise Ocaka, et al.
Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Results from a 78-week, single-arm, open-label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long-chain fatty acid oxidation disorders (LC-FAOD)Jerry Vockley, Barbara Burton, Gerard T Berry, et al.
Journal of Inherited Metabolic Disease|June 5, 2023
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension studyJerry Vockley, Barbara K Burton, Gerard Berry, et al.
Pageof 6