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Stephanie Grunewald

Showing results (31-40 of 59) with videos related to

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Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
Analytical Chemistry|November 6, 2015
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VIWendy E Heywood, Stephane Camuzeaux, Ivan Doykov, et al.
Brain : a Journal of Neurology|September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypesEmma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Molecular Genetics and Metabolism|July 15, 2025
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trialEugen Mengel, Rosalia M Da Riol, Mireia Del Toro, et al.
Journal of Medical Virology|August 20, 2021
Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patientsFlorencia A T Boshier, Juanita Pang, Justin Penner, et al.
Journal of Inherited Metabolic Disease|February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionPatrick Forny, Friederike Hörster, Diana Ballhausen, et al.
Orphanet Journal of Rare Diseases|November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Pageof 6

Showing results (31-40 of 59) with videos related to

Sort By:
Pageof 6
Neurology. Genetics|May 31, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics EraPatrick Forny, Emma Footitt, James E Davison, et al.
Analytical Chemistry|November 6, 2015
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VIWendy E Heywood, Stephane Camuzeaux, Ivan Doykov, et al.
Brain : a Journal of Neurology|September 9, 2016
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypesEmma S Reid, Apostolos Papandreou, Suzanne Drury, et al.
Molecular Genetics and Metabolism|July 15, 2025
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trialEugen Mengel, Rosalia M Da Riol, Mireia Del Toro, et al.
Journal of Medical Virology|August 20, 2021
Evolution of viral variants in remdesivir-treated and untreated SARS-CoV-2-infected pediatrics patientsFlorencia A T Boshier, Juanita Pang, Justin Penner, et al.
Journal of Inherited Metabolic Disease|February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revisionPatrick Forny, Friederike Hörster, Diana Ballhausen, et al.
Orphanet Journal of Rare Diseases|November 24, 2020
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort studyEugen Mengel, Bruno Bembi, Mireia Del Toro, et al.
JAMA Ophthalmology|March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal DystrophyRachel L Taylor, Gavin Arno, James A Poulter, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Journal of Inherited Metabolic Disease|December 5, 2024
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendationsVeronika Holubova, Rita Barone, Stephanie Grunewald, et al.
Pageof 6